Telethon Foundation, Italy

2018

• A novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
• A silk-based bone marrow model to predict individual response to old and new drugs for increasing platelet count in inherited thrombocytopenias
• Contribution of lipids and their oxidized metabolites on Arrhythmogenic Cardiomyopathy pathogenesis
• Development of Exon Specific U1 snRNA-based therapy for Familial Dysautonomia
• Extracellular ATP and T regulatory cells: new therapeutics targets in alpha-sarcoglycan deficient muscular dystrophy (LGMD2D)
• Unveiling the genetic predisposition to an increased autoimmunity risk in patients with glycogen storage disease type 1b

2017

• A mitochondrial therapy for muscular dystrophies
• A novel comprehensive strategy for the study of the molecular basis of Familial Hemiplegic Migraine 3
• A novel in vitro Duchenne Muscular Dystrophy cardiomyopathy model: human iPSC-derived cardiomyocytes for mechanistic studies
• Charcot-Marie-Tooth type 2B: Role of the Rab7 GTPase and of Rab7 interacting proteins
• Cone dystrophies and retinal degeneration from protein structures to biological networks. Toward the design of therapeutic molecules
• Contribution of lipids and their oxidized metabolites on Arrhythmogenic Cardiomyopathy pathogenesis
• Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
• Developing tools for trial readiness in primary mitochondrial myopathies of the adulthood
• Dissecting dendritic cell subsets as key to installing tolerance to FVIII in hemophilia A
• Excitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
• Generation of an in vitro model to investigate replicative stress as the possible molecular mechanism underlying Schimke immunoosseous dysplasia
• Genetic and pharmacological rescue of TM4SF2 loss of function in animal model and iPS cells
• Hereditary spastic paraplegia: investigations on the regulation of spastin protein mediated by the kinase HIPK2 in proliferating cells and in neurons
• Identification of new druggable targets and potential therapeutic compounds for Spinal Muscular Atrophy, using a C.elegans model of neurodegeneration
• Impairment of GABAergic signaling and synaptic plasticity as key determinants for neurodevelopmental disorders: a study from NL3R451C knock-in mice, an animal model of autism
• Implementation of human neuronal cultures and mouse models of Pantothenate kinase 2 deficiency to investigate pathogenic mechanisms of iron-related neurodegeneration and evaluate Coenzyme A therapeutic efficacy
• Mitochondrial Ca2+ uptake in the pathogenesis of familial Alzheimer’s disease
• Modulation of the cyclin inhibitor p27 to ameliorate Merosin Deficient Congenital Muscular Dystrophy (MDC1A)
• Neuronal dysfunctions underlying Phelan-McDermid syndrome and theirs rescue by genetic and pharmacological modulation of mGlu5 signaling
• Neuroserpin misfolding and FENIB neurodegeneration: mechanism and inhibition processes
• Rescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway
• RNA-based studies of Duchenne Muscular Dystrophy: post-transcriptional control and role of non coding RNAs in normal and dystrophic muscle development
• Role of the Coiled-coil structure of the Huntingtin protein in the intercellular propagation of polyQ aggregates and in the progression of the disease
• SAP-mediated DGKa inhibition triggers a novel cell fate switch in antigen-activated T cells: implications for XLP1 therapy
• Solving the puzzle of protocadherin-19 mosaicism to understand the pathophysiology of PCDH19 Female Epilepsy (PCDH19-FE)
• Targeting aberrant Cl- homeostasis and GABAergic transmission in Down syndrome to design innovative therapeutic approaches
• Targeting lipids in CLN8-associated NCL diseases: structural and functional interaction of CLN8 with vesicle-associated membrane protein-associated protein A (VAPA), and genotype-phenotype correlations
• Targeting mitochondria in myopathies with RyR1 and MICU1 mutations
• Targeting neurons with cholesterol. How can it change the future of Huntington Disease patients
• The ciliopathy-related traffic machinery: a new player in immune synapse assembly in T lymphocytes and a disease target in common variable immunodeficiency (CVID)
• Unravelling the role of PAX2 mutations in human Focal Segmental Glomerulosclerosis

2016

• Characterization of recently identified gelsolin variants responsible for a novel renal amyloidosis and in silico screening of drug candidates (website)
• Chondrodysplasia with joint dislocations gPAPP type: insight on the molecular basis of the disorder and the role of IMPAD1 in post-natal skeletal development (website)
• Clinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1 (website)
• Clinical network and Registry for Trial Readiness in Spinal and Bulbar Muscle Atrophy (website)
• Contribution of lipids and their oxidized metabolites on Arrhythmogenic Cardiomyopathy pathogenesis
• Defining a role for GDD1/TMEM16E in the skeletal bone syndrome Gnathodiaphyseal Dysplasia (website)
• Defining the molecular pathogenesis of the ribosomopathy cartilage hair hypoplasia (website)
• Defining the role of the cellular prion protein at the intersection of several neurodegenerative diseases (website)
• Developing tools for trial readiness in primary mitochondrial myopathies of the adulthood (website)
• Development of in vivo therapeutic strategies for pain and pruritus in Olmsted syndrome (website)
• Elucidating the genetic heterogeneity of Zimmermann-Laband syndrome (website)
• Generation of a novel mouse model for SAM syndrome (website)
• Generation of an in vitro model to investigate replicative stress as the possible molecular mechanism underlying Schimke immunoosseous dysplasia (website)
• Investigating the contribution of the telomeric gene AKTIP in progeroid syndromes with unknown mutations (website)
• Long term natural history in Duchenne muscular dystrophy (website)
• Observational longitudinal study of growth patterns, body composition, energy expenditure and dietary intake in Italian infants and children with spinal muscular atrophy type I and II (website)
• Parkinson’s disease at the synaptic site: short and long term impact of pathological LRRK2 kinase activity (website)
• Rescue of Fanconi Bickel Syndrome by targeting glucose transport in the renal proximal tubule (website)
• Telethon Undiagnosed Disease Program – Revised Proposal (website)
• TTR-FAP Italian Registry: a collaborative network for definition of natural history, psychosocial burden, standards of care and clinical trials
• Understanding the molecular mechanisms causing osteogenesis imperfecta type XIV due to loss-of-function in TMEM38B (website)
• USEFUL: User-centred assistive SystEm for arm Functions in neuromuscuLar subjects (website)

2015

• A Drosophila model for studying neurological defects associated with Congenital Disorder of Glycosylation type IIe (website)
• A new exploitation of a tetracationic-porphyrin able to reduce PrPC and to inhibit PrPSc replication: characterization of the mechanism of action and preclinical studies in mouse models of genetic prion disease (website)
• Analysis of neuronal alterations associated to PARK2 mutations and their rescue by genetic and pharmacological therapies targeting kainate receptors (website)
• Bridging Timothy syndrome Cav1.2 calcium channel mutations (TS1 and TS2) to autism spectrum disorders (website)
• Clinical, molecular and pathogenetic studies of Neutral Lipid Storage Disease (NLSD) (website)
• Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6 (website)
• Crosstalks between DNA damage response and retroelements activity in the pathogenesis of Aicardi-Goutières Syndrome (website)
• Delineating the molecular pathway and pathogenic mechanism underlying autosomal dominant lateral temporal epilepsy (ADLTE) (website)
• Discovering molecular defects of severe gut dysfunction: new abnormalities underlying Chronic Intestinal Pseudo-Obstruction (CIPO) (website)
• Dissecting the molecular and cellular mechanisms of the MACS/RIN2 syndrome (website)
• Drug testing for liver disease in alpha-1 antitrypsin deficiency by a large-scale patient-specific hiPS cells library (website)
• Epigenetic and synaptic mechanisms affected in Fragile X Syndrome (website)
• Exploring the pathogenetic Basis of ICF Syndrome With Human Induced Pluripotent Stem Cells (website)
• Extending the Optic atrophy 1 dependent cristae remodeling: from models to a therapy of autosomal dominant optic atrophy
• Fatal Familial Insomnia: preventive treatment with doxycycline of at risk individuals
• Fibrous Dysplasia: A roadmap to treatment enabled by discovery of unpredicted mechanisms in first-in-class mouse models (website)
• Functional and structural studies of human CLC chloride proteins involved in genetic diseases (website)
• Gene therapy and long term evaluation of different dietary regimens in a Glycogen Storage Disease Type III KO mouse model (website)
• Genetics, physiopathology and therapeutic options in a novel monogenic multisystem inflammatory disorder due to DNAse II deficiency (website)
• Genotype-phenotype correlation for magnetic resonance imaging features of Mowat-Wilson syndrome with Zeb2 mutation/deletion; future discoveries of the role of the gene Zeb2 in the development of the human brain (website)
• Genotype-phenotype correlations, novel pathogenetic mechanisms, and pilot clinical studies in neonatal epilepsies associated to mutations in the KCNQ2/3 potassium channel genes (website)
• Identification of genes for Aicardi syndrome by exome sequencing (website)
• Megalencephalic leukoencephalopathy with subcortical cysts: study of MLC molecular pathogenesis and identification of potential therapeutic targets using astrocytes derived from patient inducible pluripotent stem cells (website)
• MitMed consortium: from the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models
• Modulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies
• Molecular and cellular underpinnings of the neurological phenotypes associated to mitochondrial citrate carrier (SLC25A1) deficiency (website)
• Molecular bases of the Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome (website)
• Multipotent and pluripotent stem cells for the elucidation and therapy of skeletal disease in mucopolysaccharidoses (MPSs) (website)
• Neurotrophic treatment to rescue synaptic plasticity and cognitive functions in a mouse model of Down Syndrome (website)
• New treatment strategies for Fibrodysplasia Ossificans Progressiva (website)
• NGS techniques to explore unusual TCF4 mutations and genetic heterogeneity in patients with Pitt-Hopkins syndrome phenotype (website)
• Novel pharmacologic approaches to hepcidin genetic disorders (website)
• Novel pharmacological approaches to increase ketone bodies availability in GLUT1 Deficiency Syndrome (website)
• Oxidative stress and Cerebral Cavernous Malformations (CCM): from disease mechanisms toward prevention and treatment (website)
• Patient-specific cellular models for Spinal Muscular Atrophy with progressive Myoclonic Epilepsy: from pathogenesis to therapeutics development for a neglected neurological disorder (website)
• Phenotypic rescue of the DiGeorge syndrome phenotype in mouse models (website)
• Plasmacytoid dendritc cells functions and autoimmunity in Wiskott-Aldrich syndrome (website)
• Platelet type-Von Willebrand disease: a rare, under-diagnosed, inherited bleeding disorder. Studies to improve the diagnosis and to understand the mechanisms of platelet dysfunction and macrothrombocytopenia (website)
• Potential therapeutic effect of beta3-adrenergic receptor agonists on X-linked Nephrogenic Diabetes Insipidus (website)
• Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target
• RNA therapeutics for Friedreich’s Ataxia (website)
• Role of ANO10 in Spinocerebellar Ataxia (website)
• Role of unprenylated 2’,3’-cyclic-nucleotide 3’-phosphodiesterase in the molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency (website)
• Small molecules to rescue folding-defective sarcoglycans: in vivo assessment of novel therapeutic strategies (website)
• Structural and functional studies of HCN1 channel mutations causing early infantile epileptic encephalopathy (website)
• The chromatin basis of neurologic dysfunction in the SWI/SNF-related autism syndrome (website)
• The HSPB2-HSPB3 complex: unraveling new functions that affect nuclear homeostasis and their implication in neuromuscular and muscular diseases (website)
• Therapeutic potential of ceruloplasmin administration in aceruloplasminemia (website)
• Therapeutic Strategies for CDKL5 Disorder (website)
• Understanding and correcting SETD5 haploinsufficiency leading to intellectual disability (website)
• X-linked Chronic Granulomatosis: molecular and cellular mechanisms underlying intestinal inflammation (website)

2014

• A mitochondrial therapy for muscular dystrophies (website)
• A novel AID structure providing new insight into HIGM2 (website)
• A novel strategy to deliver glucose to the brain under conditions of glucose transporter deficiency (website)
• Brain mapping of the cortical representation of facial movements in patients with congenital facial palsy undergoing surgical procedures of facial animation (website)
• Building a Nation-wide Italian collaborative network for muscle glycogenoses: registry and natural history (website)
• Cell therapy for Crigler-Najjar type I syndrome using human adult liver stem cells (website)
• Cellular and animal models of CLOVES syndrome (website)
• CMT National Registry: towards definition of standards of care and clinical trials (website)
• Complete molecular characterization of patients affected by congenital muscular dystrophies with alpha-dystroglycan defect using next generation sequencing strategies (website)
• Cryopyrin associated periodic syndromes (CAPS): investigations on patients blood cells and in a knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome (website)
• Dechipering the mechanism of immune dysfunction in Vici syndrome (website)
• Determinants of neurodegeneration in Ataxia Telangiectasia (website)
• Developing peptides pharmacologically active for the most frequent Wilson disease-causing ATP7B mutant (website)
• Development and implant of the photovoltaic artificial retina in the pig with photoreceptor degeneration: towards the human Phase-1 experimentation (website)
• Development of a RNA-based therapeutic approach for Hemophilia B caused by exon-skipping mutations (website)
• Development of an in vitro disease model system for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome (website)
• Development of an Italian Clinical Network for Spinal Muscular Atrophy (website)
• Disease gene identification in non-photosensitive trichothiodystrophy by exome sequencing (website)
• Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules (website)
• Dissecting The Molecular Function Of Mutant Huntingtin With Stem Cells (website)
• Drosophila melanogaster as a model to study the role of the Fragile X Mental Retardation Protein in the genome stability pathway mediated by piRNAs (website)
• Evaluating the role of ubiquitin and endocytosis in Gitelman syndrome (website)
• Exploring PEDF as therapeutic agent for retinitis pigmentosa (website)
• Familial ß2-microglobulin amyloidosis: from the elucidation of the pathogenic mechanism to the discovery of novel effective drugs
  (website)
• Familial hemiplegic migraine mechanisms (website)
• FSHD Muscular Dystrophy Provides a Molecular Understanding of the Repetitive (epi) Genome (website)
• Functional role of Ezh2 mutations in Weaver Syndrome (website)
• Generation of animal models to define molecular mechanisms and novel therapeutic strategies for Familial Primary Localized Cutaneous Amyloidosis (website)
• Identification of new therapeutic agents for the treatment of Glycogenosis type 2 due to the common splicing mutation c.-32-13T>G (website)
• Identification of novel gene(s) associated with Crisponi/Cold Induced Sweating syndrome-like phenotypes by whole-exome sequencing (website)
• Improving MC4R signaling via isoform selective PI3K targeting to fight melanocortin obesity syndrome (website)
• In vitro feasibility study of a protein replacement therapy for methylmalonic acidemia with homocystinuria CblC type: delivery of recombinant human MMACHC proteins into primary fibroblasts from CblC patients (website)
• In-depth phenotyping and experimental therapy of autosomal dominant osteopetrosis (website)
• Innovative therapeutic strategy for Duchenne Muscular Dystrophy by AAV mediated delivery of artificial transcription factor genes (website)
• Installing FVIII-specific tolerance in hemophilia A via tryptophan catabolites and aryl hydrocarbon receptor (AhR) activation (website)
• Investigation of the molecular basis of Posterior Colum Ataxia and Retinitis Pigmentosa (website)
• JP45 a functional modifier in ryanodinopathies (website)
• Manipulating Autophagy in Muscle Diseases (website)
• MitCare-2 (website)
• Molecular mechanisms of pathogenesis and preclinical treatment in renal disorders associated with uromodulin mutations (website)
• Motor neuron degeneration in Spinal and Bulbar Muscular Atrophy: molecular approaches to counteract mutant androgen receptor neurotoxicity (website)
• Neurodevelopmental alterations in Weaver syndrome: a cell reprogramming-based approach to the elucidation of epigenetic disease mechanisms (website)
• New strategies to target hyper-excitability in Rett syndrome (website)
• Novel therapeutic interventions for cerebral cavernous malformations (website)
• Peptide-conjugated Morpholino for treatment of Spinal Muscular Atrophy (website)
• Phenotypic and molecular characterization of FSHD families: a systematic approach towards trial readiness (website)
• Preclinical evaluation of pharmacogenetics and new therapeutic options in nondystrophic myotonias toward personalized medicine (website)
• Protein misfolding in Charcot-Marie-Tooth disease: towards the development of a therapeutic strategy targeting the Unfolded Protein Response (website)
• Regulation of SMN2 splicing in cell and mouse models of Spinal Muscular Atrophy (website)
• Renal Disease In Genetic Lcat Deficiency: From Pathogenesis To Therapy (website)
• Role of Prostaglandin D2 Synthase in PNS Myelination and Remyelination (website)
• Role of the putative endosomal Na+/H+ antiporter NHE6 in Angelman-like syndrome and other forms of X-linked mental retardation syndromes (website)
• SAMHD1, a new regulator of DNA replication involved in Aicardi-GoutiŠres syndrome (website)
• Skeletal muscle and circulating microRNAs in Myotonic Dystrophy Type 1 (website)
• The metabolic abnormality of Hereditary Hemochromatosis: mechanisms and consequences of hepcidin deficiency on glucose homeostasis and insulin signaling (website)
• Transcriptional and epigenetic dysfunction in Williams Beuren and 7q11.23 microduplication syndromes (website)
• Translating molecular pathology into a therapeutic strategy in SCA38, a newly identified form of spinocerebellar ataxia (website)
• Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1 (website)
• Validation of the human delta globin gene as a therapeutic target for Beta Thalassemia and Sickle Cell Disease (website)

2013

• A Drosophila model for CEDNIK syndrome (website)
• A Drosophila model for Spinal Muscular Atrophy (SMA): identification and characterization of Smn interactors and phenotypic modifiers (website)
• A novel AID structure providing new insight into HIGM2 (website)
• Activation of serotonin type 7 (5-HT7) receptors as a novel therapeutic strategy in Fragile X Syndrome (website)
• Altered calcium handling in Central Core Disease and Malignant Hyperthermia: understand molecular mechanisms and genetic background to develop innovative therapeutic interventions (website)
• An integrated strategy to functionally dissect the genetic and epigenetic mechanisms underlying Kabuki Syndrome (website)
• Analysis of lyn core signaling machinery in neuroacanthocytosis (website)
• Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? (website)
• CFTR-Deficiency causes a dysregulation in toll-like receptor-mediated innate immune responses: pathogenetic and therapeutic implications for cystic fibrosis-related liver disease
• Clinical, genetic and functional studies on Joubert syndrome and related disorders: a model to understand the complexity of ciliopathies (website)
• Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients (website)
• Development of an in vitro disease model system for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome (website)
• Development of an uricolytic treatment for HPRT-deficiency in animal models (website)
• Dechipering the mechanism of immune dysfunction in Vici syndrome (website)
• Dissecting the molecular basis of SEPN1-related-myopathies (website)
• Engineered T regulatory cells to control the immune-inflammatory response and the accelerated onset of atherosclerosis in familial hypercholesterolemia (website)
• Enlightening molecular mechanisms of abnormal cerebellum development in mouse models of human Niemann-Pick C 1 disease: the efficacy of hydroxypropyl-betacyclodextrin in correcting the phenotype (website)
• Epigenetic therapy to abrogate myostatin signalling in Duchenne Muscular Dystrophy (website)
• Evaluating the role of ubiquitin and endocytosis in Gitelman syndrome (website)
• Exploiting neural stem cell-targeted mouse models for improving the understanding of the pathogenetic mechanisms underlying Tuberous Sclerosis Complex and developing novel therapeutic approaches (website)
• Extracellular adenosine-triphosphate (e-ATP) and purinergic signalling in the pathogenesis of alpha-sarcoglycan deficient muscular dystrophy (LGMD2D) (website)
• Gain-of-function mutations of the V2 vasopressin receptor in nephrogenic syndrome of inappropriate antidiuresis (NSIAD): molecular characterization and in silico identification of potential therapeutic agents (website)
• Genetic diseases of mitochondrial shape: integrated approaches to understand pathogenesis and establish treatments (website)
• Hypertrophic cardiomyopathy caused by mutations in the thin filament regulatory proteins of the sarcomere (website)
• Identification of molecular targets for the treatment of the skeletal phenotype in Lysosomal Storage Disorders (website)
• In-depth clinical and genetic study of familial and sporadic patients with Nocturnal Frontal Lobe Epilepsy (NFLE): identification of new genes by WES in 192 cases negative for mutations in the neuronal nicotinic acetylcholine receptor subunits genes (website)
• Inner ear connexins: role in hearing acquisition and DFNB1 pathophysiology (website)
• Isolated domains of aminoacyl tRNA syntethases as a novel therapeutic tool for mt tRNA mutation associated disease (website)
• Investigation of the molecular basis of Posterior Colum Ataxia and Retinitis Pigmentosa (website)
• Modelling etiopathogenesis of the Foxg1-linked variant of West syndrome (website)
• Modulation of dystrophic microenvironment to improve stem cell-mediated therapy (website)
• Molecular bases of Noonan Syndrome and related disorders (website)
• Neurodevelopmental alterations in Weaver syndrome: a cell reprogramming-based approach to the elucidation of epigenetic disease mechanisms (website)
• New approaches to the molecular pathogenesis of CCHS: implications for therapeutic strategies (website)
• Pathogenesis of primary and secondary Coenzyme Q deficiency (website)
• Post GWAS functional characterization of BCL11A locus toward the development of a treatment for á-thalassemia (website)
• Preclinical evaluation of biocompatible nanoparticles as delivery system of antisense oligoribonucleotides for exon skipping-mediated dystrophin restoration (website)
• Protein kinase C Theta as a novel molecular target to counteract inflammation in Muscular Dystrophy (website)
• Purkinje cell degeneration in Marinesco-Sjogren syndrome: role of cell stress, alterations of proteostasis and calcium homeostasis (website)
• Relevance of the axonal SMN protein (a-SMN) for Spinal Muscular Atrophy: novel cell models, transgenic mice and therapeutic approaches (website)
• Rescue of Diamond-Blackfan Anemia haploinsufficiency by knock-up of the deficient protein (website)
• Ring 14 syndrome: toward a detailed genotype-phenotype correlation (website)
• Role of ADAM10 in Huntington’s Disease (website)
• Role of SAP-mediated inhibition of DGKa in regulating restimulation induced cell death (RICD): does DGKa targeting rescue RICD in XLP patients? (website)
• Role of the novel presynaptic protein PRRT2 in neuronal physiology and in the pathogenesis of paroxysmal neurological disorders (website)
• Role of the putative endosomal Na+/H+ antiporter NHE6 in Angelman-like syndrome and other forms of X-linked mental retardation syndromes (website)
• Semaphorin3E and CHD7 signalling pathways in the control of olfaction and reproduction: link for Kallmann and CHARGE syndromes? (website)
• Structural and functional analysis of selected connexin32 mutations implicated in the pathogenesis of the X-linked form of Charcot-Marie-Tooth disease
• Targeting ER stress to treat osteogenesis imperfect (website)
• Telethon Network of Genetic Biobanks (website)
• Thalidomide for the treatment of severe recurrent epistaxis in hereditary hemorrhagic telangiectasia: clinical trial on the efficacy of oral administration and “in vitro” study of a new drug formulation for a topical effect (website)
• Translating current and new knowledge on the developmental function of p63 into restoring normal development in models of organ culture and in vivo (website)
• Understanding ATM dependent control of cellular metabolism (website)
• Unravelling the Rett syndrome: effects of MeCP2 mutations on synaptic function (website)

2012

• A Drosophila model for CEDNIK syndrome (website)
• Analysis of neuronal alterations associated to TM4SF2 mutations and their rescue by genetic and pharmacological therapies (website)
• Analysis of RAB39B role in X-linked Intellectual Disability: AMPA receptors as possible therapeutic targets (website)
• Assessement of the pathogenic role of a missense variant in a benign autossomal dominant myopathy with hyperCKaemia (website)
• Assessment of upper limb function in non ambulant Duchenne muscular dystrophy (website)
• Calcium dysregulation and oxidative stress: from molecular mechanisms to therapeutic implications in Hailey-Hailey diseas (website)
• Cellular models to identify the mechanisms underlying the chromosome abnormalities of cohesinopathy patients (website)
• CFTR-Deficiency causes a dysregulation in toll-like receptor-mediated innate immune responses: pathogenetic and therapeutic implications for cystic fibrosis-related liver disease (website)
• Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of congenital myopathy: understanding the mechanisms leading to disease (website)
• Clinical, morphological and molecular study of italian patients with congenital myopathy (website)
• Control of ATM activity by DICER and DROSHA RNA products (website)
• Development and application of opto-neural prosthetic devices as a therapeutic approach for Retinitis pigmentosa (website)
• Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy (website)
• Development of the Italian National Registry for FSHD (website)
• Dissecting the molecular mechanisms underlying epidermal defects in AEC syndrome (website)
• Drug discovery for dystroglycanopathies via LARGE promoter activation screening (website)
• Engineered T regulatory cells to control the immune-inflammatory response and the accelerated onset of atherosclerosis in familial hypercholesterolemia (website)
• Evaluation of bone turnover, bone metabolism, bone density, and fractures in children with Duchenne Muscular Dystrophy and possible side effects of long-term corticosteroid therapy (BON-DMD) (website)
• Exploring mitochondrial dysfunction in calpain-3 related muscular dystrophy (website)
• Extending the Optic atrophy 1 dependent cristae remodeling: from models to a rationale for therapy of autosomal dominant optic atrophy (website)
• Extracellular adenosine-triphosphate (e-ATP) and purinergic signalling in the pathogenesis of alpha-sarcoglycan deficient muscular dystrophy (LGMD2D) (website)
• FSHD muscular dystrophy: molecular pathogenesis and prospects for therapy (website)
• Function and dysfunction of the Parkinson’s disease kinase LRRK2 at the pre-synaptic site (website)
• Genetic diagnosis of Italian LGMD patients by NGS technology (website)
• Hemochromatosis: from genes to clinics and back (website)
• Identification and functional characterization of molecular targets of the Sox2 transcription factor in human inherited brain disease: an approach through Sox2 conditional knockout in mouse (website)
• Identification of neuronal alterations underlying SHANK3 mutations and their rescue by genetic/pharmacological therapies in animal models and patients’ derived iPS cells (website)
• Identification of novel genes for autosomal dominant lateral temporal epilepsy in families without LGI1 mutations (website)
• Identification of the gene determining Limb Girdle Muscular Dystrophy type 1H (website)
• Identification of the gene responsible for a new form of distal myopathy (website)
• Identification of the gene responsible for an autosomal dominant form of Common Variable Immunodeficiency (website)
• Identification of therapeutic targets in primary microcephaly through the analysis of the CIT-K/ASPM pathway (website)
• Impact of reduced glial-derived cholesterol in Huntington’s disease (website)
• Improving the diagnostic accuracy of a neonatal screening protocol for Cystic Fibrosis: choice of the optimal thresholds for the blood level of immunoreactive trypsin (IRT) (website)
• Is the limb-girdle muscular dystrophy type 2H a defective autophagy disease? (website)
• Low-protein diet to correct defective autophagy in patients with collagen VI related myopathies (website)
• Melusin gene therapy: a possible approach to prevent cardiomyopathy (website)
• Mesenchymal Stem Cell Transplantation as a therapeutic approach to RANKL-dependent Osteopetrosis (website)
• Mitochondrial dynamics and calcium homeostasis at the crossroad of the AFG3L2-associated pathway to cerebellar degeneration. From molecular hypothesis to preclinical treatment (website)
• Model systems to identify genes and factors in the signal transduction pathway defective in Ataxia telangiectasia patients (website)
• Molecular mechanisms of transport, small ligand modulation, and subunit interaction of chloride transporting CLC proteins involved in human genetic diseases (website)
• Muscular miRNome and transcriptome analysis as a tool for the identification of biomarkers in spinal muscular atrophy (website)
• Mutant prion protein impairs delivery of voltage gated calcium channels to the presynaptic membrane: mechanisms of neurotoxicity and potential therapeutic strategies (website)
• Myopalladin in Dilated Cardiomyopathy and Limb Girdle Muscular Dystrophy (website)
• New pharmacological targets in Fanconi Anemia (website)
• Novel structure-guided therapeutic approaches for oculopharyngeal muscular dystrophy (OPMD) and related diseases (website)
• Oxytocin analogs in Prader-Willi syndrome: new tools to investigate and treat social and cognitive autistic-like symptoms (website)
• Peroxisomal Enzyme Deficiencies in Rhizomelic Chondrodysplasia Punctata: Biochemistry and Therapeutic Avenues (website)
• Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets (website)
• Pharmacological rescue of misfolded proteins: innovative approaches for the cure of three muscular diseases (website)
• Phospholipid metabolism and membrane trafficking in the pathogenesis of Charcot-Marie-Tooth neuropathies (website)
• PINK1, mutated in autosomal recessive Parkinson’ s disease, interacts with the proautophagic protein Beclin1 and its antiapoptotic partner Bcl-xL: unraveling the significance of these interactions at the crossroad of multiple neuroprotective pathways (website)
• Preventive therapy of mental retardation in Down syndrome by a novel gamma-secretase inhibitor: focus on APP-dependent mechanisms in neurodevelopment (website)
• Role of dysregulated astrocyte-GABAergic interneuron interactions in the control of seizures in monogenic models of epilepsy (website)
• Role of Jab1 in the control of nerve development and repair: implication in the pathogenesis of Merosin Deficient Congenital Muscular Dystrophy (MDC1A)-associated hereditary neuropathies (website)
• Role of purinergic receptors in myelination: therapeutic implications for treatment of the peripheral neurophaty Charcot-Marie-Tooth 1A (website)
• Role of Rho family GTPases during neuronal development (website)
• Role of the gene PC4/IFRD1 in muscle and neuron regeneration (website)
• Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets (website)
• Statins as potential therapeutic agents for handling Nephrogenic Diabetes Insipidus (website)
• Structural and functional analysis of selected connexin32 mutations implicated in the pathogenesis of the X-linked form of Charcot-Marie-Tooth disease (website)
• TGFbeta1 in Huntington Disease: a new disease mechanism and potential biomarker (website)
• The Heme-oxygenase 1 (HO-1) as modulator of Cystic Fibrosis lung disease (website)
• The Role of Inositol 1,4,5-trisphosphate Mediated Nuclear Ca2+ Signals In Core Myopathies (website)
• The role of neuronal nicotinic receptors in the pathogenesis of autosomal dominant nocturnal frontal lobe epilepsy: a study on wild-type and conditional transgenic mice expressing the beta2-V287L subunit (website)
• Therapeutic strategies to ameliorate heme-driven tissue oxidative injury in sickle cell anemia (website)
• Towards the Comprehension of Polycystin-1 Function and Identification of Specific Targets for Therapy in ADPKD
• Uncovering the molecular pathology of Werner syndrome: analysis of the functional relationship between ATR-related WRN function, replication stress and premature cellular senescence (website)
• Understanding XY chromosome segregation defects in mammals: new insights from the regulation of expression and function of SPO11 splice isoforms (website)

2011

• A microRNA dimmer switch for hematopoietic stem cell gene therapy (website)
• A national network for the study of spinocerebellars ataxia and spastic paraparesis in Italy (website)
• A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies (website)
• A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations: An Experimental and Clinical Study (website)
• A pharmacological approach to RANKL-dependent osteoclast-poor Autosomal Recessive Osteopetrosis (website)
• Analysis at the molecular level of the interaction between alpha-dystroglycan and beta-dystroglycan and involvements for physiopathology of muscle (website)
• Analysis of the role played by P63 and DLX genes in the pathogenesis of split hand and foot Malformation-4 (website)
• Bone mass and Bone Metabolism in Duchenne muscular dystrophy (website)
• Cell Therapy of Duchenne Muscular Dystrophy by Intra-Arterial Delivery of HLA-Identical Allogeneic Mesoangioblasts (website)
• Cell therapy strategies for tolerance induction in humans (website)
• Cell/gene transfer based therapies for IPEX Syndrome and FOXP3-gene independent diseases with immune dysregulation (website)
• Cellular and Molecular Mechanisms Underlying Autoimmune Manifestations in Wiskott Aldrich Syndrome (website)
• Cilia and human diseases: insights from the OFD type I syndrome (website)
• Clinical and laboratory network for LGMD diagnosis, in view of a national registry (website)
• Clinical trial of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome (website)
• CNS-directed gene/cell therapy of LSDs (website)
• Defining the cellular and molecular basis of the Spondyloepiphyseal Dysplasia Tarda and identification of targets for pharmacological intervention (website)
• Developing a rational basis for pharmacological correction of the D508-CFTR folding trafficking defects (website)
• Development of a fly model for Juvenile Myoclonic Epilepsy (website)
• Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons (website)
• Development of an Instrumented Movement Analysis protocol for the multitasking analysis of locomotor functions in adult and young patients with Charcot-Marie-Tooth disease: multicenter study to characterise reliability and responsiveness (website)
• Development of new strategies for the treatment of Primary Hyperoxaluria Type I (website)
• Dissecting the molecular basis of neurodegeneration in Cockayne syndrome (website)
• Dissecting the molecular mechanisms underlying endocytic dysfunctions induced by mutations in OCRL and CLC5 to identify correctors for Lowe syndrome and Dent disease (website)
• Dissecting the molecular mechanisms underlying epidermal defects in AEC syndrome (website)
• Dissection of Cellular and Molecular Mechanisms Underlying Autoimmunity in Omenn Syndrome (website)
• Efficacy and Safety of Transcriptional Repressors as Biotherapeutics for the Treatment of Autosmal Dominant Retinitis Pigmentosa (ADRP) (website)
• Functional and epidemiological study of neuroferritinopathies: implications for the role of iron in neurodegenerative disorders (website)
• Functional determinants of episodic ataxia/myokymia syndrome (website)
• Gene therapy for betathal (website)
• Gene therapy for Chronic Granulomatous Disease (website)
• Gene Therapy for Inborn Errors of Hepatocyte Metabolism (website)
• Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) (website)
• Gene therapy strategies for Antigen-specific tolerance induction in vivo (website)
• Generation of animal models and definition of the molecular mechanisms of the human amyloid corneal dystrophy (website)
• Genetic basis of steroid resistant nephrotic syndrome and implications for therapy (website)
• Genetic basis of steroid resistant nephrotic syndrome and implications for therapy (website)
• Genomic and proteomic clinic study of Parkinson’s Disease linked to PINK1, gene cellular models and clinic-diagnostic translation (website)
• Growth disorders and genomic imprinting: genetic defects and molecular mechanisms (website)
• Hematopoietic stem cell gene therapy for the treatement of globoid cell leukodystrophy (website)
• Hematopoietic stem cell gene therapy for the treatment of type I mucopolysaccharidosis (website)
• Hereditary chloride channelopathies of skeletal muscle and kidney: from genotype to phenotype and novel pharmacotherapeutical approaches (website)
• Homopolymeric alanine repeats: structure, function, and mechanistic role in the pathogenesis of polyalanine expansion genetic diseases (website)
• HSC Gene Therapy for LSDs: Understanding the Modalities of Cell Replacement in the LSD Brain for Improving Therapeutic Efficacy (website)
• Identification and characterization of proteins that, interacting with MeCP2, could be involved in Rett syndrome (website)
• Identification of neuronal alterations underlying SHANK3 mutations and their rescue by genetic/pharmacological therapies in animal models and patients’ derived iPS cells (website)
• Identification of new genes associated to familial idiopathic steroid-resistant nephrotic syndrome (website)
• Identification of novel compounds for the pharmacological correction of cystic fibrosis chloride transport defect (website)
• Identification of Novel Strategies to Correct the Chloride Transport Defect (website)
• Identification of Recessive Genes Causative for Parkinson’s Disease using Exome Sequencing (website)
• Identification of therapeutic targets in primary microcephaly through the analysis of the CIT-K/ASPM pathway (website)
• Improving Safety of Lentiviral Gene Transfer (website)
• Increasing Clonal Diversity of Genetically Modified HSC (website)
• Inherited defects in DNA damage signaling causing neuronal degeneration: understanding the mechanisms (website)
• Integrated in silico, in vitro, and in vivo studies towards the design of molecules with therapeutic potential for Retinitis Pigmentosa (website)
• Integration core: integration site analysis in a clinical trial of lentiviral vector based hematopoietic stem cell gene therapy for metachromatic leukodystrophy (website)
• Investigating new therapeutic approaches to Friedreich’s Ataxia (website)
• Involvement of synapsin genes in epilepsy: genetic and functional analysis in human and mouse (website)
• Laminins receptors and signals in hereditary neuropathies (website)
• Liver gene transfer and hemophilia gene therapy (website)
• Loss of central and peripheral tolerance mechanisms leading to autoimmune manifestations in ADA-deficient SCID (website)
• Mechanisms underlying altered GABAergic signaling in the hippocampus of transgenic mice carrying the human R451C mutation of the NLG3 gene: an animal model of autism (website)
• MeCP2 phosphorylation and related kinases in Rett syndrome and early infantile epileptic encephalopathy 2 (website)
• MicroRNA-Regulated Gene Networks in the Retina (website)
• MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders (website)
• Mitochondrial aspartate/glutamate carrier 1 deficiency: pathogenetic mechanisms and mutational analysis (website)
• Models of atlastin function and dysfunction (website)
• Modifying Lysosomal Enzymes to Improve Secretion and Brain Delivery [SuRE] (website)
• Modulation of Cellular Clearance in Lysosomal Storage Disorders (website)
• Modulation of Eukaryotic Initiation Factor 6 Activity as a Therapeutic Tool in Ribosome-Based Disease (website)
• Molecular bases and in vitro modeling of Cdkl5 dependent infantile neurological disorders (website)
• Molecular mechanisms underlying brain alterations in the CDKL5 variant of Rett’s syndrome (website)
• Molecular pathogenesis of catecholaminergic polymorphic ventricular tachycardia (CPVT) linked to calsequestrin 2 (casq2) mutations (website)
• Mutations of cardiac calsequestrin and cardiac arrhythmias: novel insights on pathogenesis and therapy (website)
• New diagnostic and therapeutic approaches for the Crigler-Najjar Syndrome Type I (website)
• Novel optogenetic approach to investigate arrhythmogenesis in dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (website)
• Novel outcome measures for Charcot-Marie-Tooth disease (website)
• Novel strategies to cure hereditary hemochromatosis through modulation of the BMP/SMAD pathway regulating the iron hormone hepcidin (website)
• Omics-based approaches for the identification of novel inherited non-syndromic sensorineural hearing loss-related genes (website)
• Osteoporosis in cystic fibrosis: study of bone mass and bone metabolism, and prospective randomized therapeutical trial (website)
• Overcoming the Challenge of Large Gene Transfer for the Therapy of Inherited Photoreceptor Diseases (website)
• Pathogenesis of Wilson Disease: Molecular mechanisms of ATP7B trafficking in the maintenance of copper homeostasis (website)
• Pathogenetic mechanisms of familial Parkinson s disease: wt and A30P alpha-synucleins affect the structure of microfilaments and intermediate filaments. Pathways and effects on cytoskeletal dynamics (website)
• Peripheral blood gene expression profiling of LRRK2 and Parkin monogenic forms of Parkinson’s disease for disease assessment (website)
• Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of metachromatic leukodystrophy (website)
• Phenotypic variability and gene haploinsufficiency (website)
• Preclinical safety evaluation of gene therapy medicinal products: tumorigenicity and toxicology study for beta-thalassemia gene therapy clinical trial (website)
• Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target (website)
• Reversible immortalization and transduction with a dystrophin artificila chromosome of human DMD mesoangioblasts for the cell therapy of muscular dystrophy (website)
• RNA-based gene therapy of Duchenne Muscular Dystrophy: role of miRNA deregulation in the pathogenesis of DMD and their possible use for improving the exon skipping strategy (website)
• Role of altered proteolysis in the degeneration of motor neurons in in vivo and in vitro models of Amyothrophic lateral sclerosis (website)
• Role of astrocytic inwardly-rectifying K+ channels in the pathogenesis of Autism Spectrum Disorders with susceptibility to seizures (Autism-Epilepsy Phenotype) (website)
• Role of melusin in cardiomyopathies and heart failure (website)
• Role of non muscle myosin IIA in MYH9 related disease (website)
• Role of oligophrenin-1 in circuit formation and function in a mouse model of X-linked mental retardation (website)
• Role of the Epigenome and noncoding Genome in Duchenne Muscle Dystrophy (website)
• Severe Combined Immunodeficiency due to ADA deficiency (website)
• Site specific integration and gene correction (website)
• Small Molecule-Based Therapies with for Lysosomal Storage Diseases (website)
• Study of improving Safety of Lentiviral Gene Transfer (website)
• Systematic gene hunting for nuclear modifiers in Leber’s hereditary optic neuropathy and their validation in model systems (website)
• Systems biology of genetic diseases: elucidating gene function and drug mode of action (website)
• The families of children with muscular dystrophies: burden, social network and professional support (website)
• The functional role of the Calcium Activated Nucleotidase 1 (CANT1) gene in the skeleton: an in vivo study with a mouse model of Desbuquois dysplasia (website)
• The intracellular control of Thyroid hormone signaling in muscle stem cells and in Duchenne Muscular Dystrophy (website)
• The intraflagellar transport system, a novel regulator of immune synapse assembly: functional dissection in T-cell antigen receptor trafficking and assessment as disease target in common variable immunodeficiency (website)
• The P2X7 receptor/adenosine-generation system: a novel target for the therapy of autoinflammatory diseases (website)
• The role of iron and mitochondria in the pathogenesis of Pantothenate Kinase Associated Neurodegeneration (PKAN): development of new neuronal cellular systems and analysis of a mouse model (website)
• The role of neuroserpin in Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) (website)
• The role of proteoglycan sulfation in skeletal development and maintenance: an in vivo approach with a mouse model of Diastrophic Dysplasia (website)
• The role of RNaseH2 in the pathogenesis of Aicardi-Goutieres syndrome (website)
• Toward a mitochondrial therapy of collagen VI muscular dystrophies (website)
• Towards an NGF-based therapy for Hereditary Sensory and Autonomic Neuropathies IV and V (website)
• Towards better AAV gene therapy: whole genome siRNA and microRNA high throughput screening for the identification of the molecular determinants governing AAV vector transduction, vector production and vector-induced gene correction (website)
• Towards Clinical Trials for AAV-Mediated Eye – and liver – Directed Gene Therapy (website)
• Tracking and Modeling of HSC Clonal Dynamics by Vector Marking (website)
• Transcription factors of the dlx homeogene family in the control of limb, craniofacial, and anterior brain development: in vivo functional studies (website)
• Translating current and new knowledge on the developmental functions of p63 into restoring normal development in models of organ culture and in vivo (website)
• Treat-nmd Outcome Measures (website)
• Ultrasound tissue characterization detects preclinical myocardial structural changes in patients affected by Duchenne and Becker muscular dystrophy (website)
• Understanding the WHIM syndrome: molecular analysis of CXCR4 functions in leukocyte trafficking and activation (website)
• Vector Safety Studies (website)

2010

• A link between Toll-like Receptor signaling in dendritic cells and autoimmune manifestations in Wiskott-Aldrich syndrome (website)
• A Multicenter Study To Evaluate The Effects On Charcot-Marie-Tooth Neuropathy Type 1a Of A Composite Treadmill, Stretching And Proprioceptive Exercise (Trespe) Rehabilitation Program (website)
• A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies (website)
• A Safety and Efficacy Study in Subjects with Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301]: treatment and follow up of 3 Italian patients (website)
• ADA-GT Development: characterization of MCB AM12/GIADA32 cell line and subclones (website)
• Analysis of candidate genetic regions and peptides and metabolites profile in autism (website)
• Animal models of neuroferritinopathies for the study of the role of iron in neurodegeneration (website)
• Bad gene, good gene: a recessive APP mutation can be both. New therapeutic perspective for Alzheimer’s disease based on an Abeta variant with dominant-negative effect on amyloidogenesis (website)
• Cell Line And Dna Bank Of Paediatric Movement Disorders (website)
• Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models (website)
• Combined enzyme enhancement therapy (EET) and enzyme replacement therapy (ERT) in patients with Pompe disease (website)
• Construction of a database for a nation-wide italian collaborative network of mitochondrial diseases (website)
• Defining the molecular signature of muscle wasting. Identification of therapeutic targets to counterat muscle degeneration (website)
• Determination of the function of the Angelman Syndrome UBE3A Ubiquitin Ligase (website)
• Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons (website)
• Development of new strategies for the treatment of Primary Hyperoxaluria Type I (website)
• Experimental gene therapy of Duchenne Muscular Dystrophy by artificial transcription factors upregulating the dystrophin-related gene Utrophin (website)
• Fatal familial insomnia: preventive treatment with doxycycline of at risk individuals (website)
• Functional, Behavioral And Genetic Study To Understand The Pathogenetic Role Of Rab And Rab-Associated Proteins In Human Mental Retardation (website)
• Hemoglobin Production in Betal-Thalassemia Erythroid Cells Following Alteration of Biomolecular Pathways Regulating Globin Gene Expression (website)
• Hereditary chloride channelopathies of skeletal muscle and kidney: From genotype to phenotype and novel pharmacotherapeutical approaches (website)
• Identification of genetic, electroanatomical and structural predictors of malignant ventricular arrhythmias in patients with Brugada syndrome (website)
• Identification of new disease-causing genes in hereditary spastic paraplegia (website)
• Identification of new disease-causing genes in hereditary spastic paraplegia (website)
• Identification of Novel Strategies to Correct the Chloride Transport Defect (website)
• Identification of the mechanisms leading to defective platelet function and impaired megathrombocytopoiesis in a novel Glanzmann’s variant hereditary macrothrombocytopenia (D673-E712del) (website)
• Improving the diagnostic accuracy of a neonatal screening protocol for Cystic Fibrosis: choice of the optimal thresholds for the blood level of immunoreactive trypsin (IRT) (website)
• Inherited defects in DNA damage signaling causing neuronal degeneration: understanding the mechanisms (website)
• Insulin-like growth factor 1/Akt and androgen signaling crosstalk in the pathogenesis of spinal and bulbar muscular atrophy (website)
• Interneuronal dysfunction in genetic epilepsies: insights from a mouse model of severe myoclonic epilepsy of infancy (SMEI) (website)
• Mechanisms of reactivation of the FMR1 gene and analysis of pathways involved in the pathogenesis of fragile X syndrome: towards a drug-based therapy (website)
• MeCP2 phosphorylation and related kinases in Rett syndrome and early infantile epileptic encephalopathy 2 (website)
• Modulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies (website)
• Molecular Bases of Noonan Syndrome and Related Disorders (website)
• Molecular functions of Ubiad1, a gene product associated to Schnyder Crystalline Corneal Dystrophy (website)
• Naples Human Mutation Gene Biobank (Nhmgbb): A Data And Samples Resource Of Neuromuscular Disorders For A Worldwide Collaboration (website)
• New diagnostic and therapeutic approaches for the Crigler-Najjar Syndrome Type I (website)
• Novel strategies to cure hereditary hemochromatosis through modulation of the BMP/SMAD pathway regulating the iron hormone hepcidin (website)
• Outcome measures in Duchenne muscular dystrophy: validation of the pediatric quality of life inventorytm neuromuscular module in the Italian population and correlation with other functional assessments (website)
• Pathogenetic mechanisms of familial Parkinson’s disease: wt and A30P alpha-synucleins affect the structure of microfilaments and intermediate filaments. Pathways and effects on cytoskeletal dynamics (website)
• Peripheral blood gene expression profiling of LRRK2 and Parkin monogenic forms of Parkinson’s disease for disease assessment (website)
• PINK1, mutated in autosomal recessive Parkinson’s disease, interacts with the proautophagic protein Beclin1 and its antiapoptotic partner Bcl-xL: unraveling the significance of these interactions at the crossroad of multiple neuroprotective pathways (website)
• Role of autophagy in muscle diseases (website)
• Role Of Chromatin Remodeling In Stem Cell Identity And Epigenetic Memory Switch Occurring In Tissue Regeneration (website)
• Role of Diacylglycerol kinase alpha in SAP function: implications for T-cell mediated immune response in XLP (X-linked lymphoproliferative disease) patients and as possible pharmacological target for XLP treatment (website)
• Role of GABAA-receptor mutations in idiopathic generalized epilepsy: a developmental study (website)
• Role of mitochondrial dynamic and autophagy in the segregation of mutant mtDNA (website)
• Set up of experimental models of alkaptonuria and preclinical testing of therapeutic agents for the treatment of ochronotic arthropathy (website)
• Structure-function studies on 24-dehydrocholesterol reductase, the affected enzyme in desmosterolosis, a severe inherited disorder of sterol metabolism (website)
• Studies of familial hemiplegic migraine transgenic mouse models and patients to investigate the crosstalk between sensory neurons and neuroinflammatory cells in trigeminal ganglia in relation to migraine pain (website)
• Therapeutic strategies to combat mitochondrial disorders (website)