A5040562624- Nuclear Structure and Function
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- RNA Research and Splicing
- Virus-based gene therapy research
- Cardiomyopathy and Myosin Studies
- Hereditary Neurological Disorders
- Cancer Research and Treatments
- Herpesvirus Infections and Treatments
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Microtubule and mitosis dynamics
- Neurogenetic and Muscular Disorders Research
- Viral Infections and Immunology Research
- Skin and Cellular Biology Research
- Cardiovascular Effects of Exercise
- Metabolism, Diabetes, and Cancer
- CAR-T cell therapy research
- Diet and metabolism studies
- Botulinum Toxin and Related Neurological Disorders
- Glioma Diagnosis and Treatment
- ECG Monitoring and Analysis
- RNA Interference and Gene Delivery
- Neurological diseases and metabolism
- Peripheral Neuropathies and Disorders
IRCCS Policlinico San Donato
2023-2024
Azienda Ospedaliera Universitaria Senese
2024
Ospedale dei Bambini Vittore Buzzi
2022-2024
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda
2024
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2014-2023
ASST Fatebenefratelli Sacco
2022-2023
Vita-Salute San Raffaele University
2011-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2014-2023
University of Milan
2023
IRCCS Ospedale San Raffaele
1995-2019
Spastic paraplegia type 10 (SPG10) is an autosomal dominant form of hereditary spastic (HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy chain implicated anterograde axonal transport. KIF5A were found both pure and complicated forms disease; single mutation was also detected CMT2 patient belonging SPG10 mutant family. To confirm involvement phenotypes define frequency Italian HSP population, we performed genetic screening this series 139 36 affected subjects. We...
Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene date, genotype-phenotype relationship poorly understood and remains uncertain. This study aimed elucidate correlation BrS.Brugada probands deemed at high future arrhythmic events underwent genetic testing phenotype characterization by means epicardial...
Cells expressing the herpes simplex-thymidine kinase (HS-TK) gene as a consequence of retroviral transduction, well TK-negative (TK¯) bystander cells, can be killed by treatment with ganciclovir (GCV). In vitro, this "bystander effect," has been attributed to metabolic cooperation through gap junctions or uptake apoptotic vesicles. We show that GCV kills U-87 glioma cells cocultured express TK (TK+) but have lost capacity for releasing particles. A photometric enzyme immunoassay identifies...
<b>Background: </b> Mutations in the <i>LMNA</i> gene, encoding human lamin A/C, have been associated with an increasing number of disorders often involving skeletal and cardiac muscle, but no clear genotype/phenotype correlation could be established to date. <b>Methods: We analyzed gene a large cohort patients mainly affected by neuromuscular or disease clustered mutated two groups unravel possible correlations. <b>Results: identified 28 variants, 9 which reported for first time. The were...
<h3>Objectives:</h3> Our aim was to conduct a comparative study in large cohort of myopathic patients carrying <i>LMNA</i> gene mutations evaluate clinical and molecular features associated with different phenotypes. <h3>Methods:</h3> We performed retrospective 78 mutation 30 familial cases without muscle involvement. analyzed characterizing the various forms <i>LMNA</i>-related myopathy through correlation statistics. <h3>Results:</h3> Of patients, 37 (47%) had limb-girdle muscular...
Laminopathies represent a heterogeneous group of genetic disorders characterised by mutations in the LMNA gene, which encodes two lamins, A and C, alternative splicing primary transcript.1 Lamins belong to intermediate filament multigene family form nuclear lamina, mesh-like structure adjacent nucleoplasmic side inner membrane.2 They interact with emerin, proteins encoded gene for X-linked (X EDMD) EDMD, several envelope chromatin. Despite their widespread distribution role architecture,...
The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects the nuclear envelope protein lamin A/C, encoded by LMNA gene, have been shown be associated with variety disorders affecting mainly muscular adipose tissues and, more recently, autosomal recessive Charcot-Marie-Tooth type 2 neuropathy. This report about patient presenting myopathy neuropathy due dominant mutation, suggesting that peripheral nerve might affected primary...
The Na+ channel mutation (p.S216L), previously associated with type 3 long-QT syndrome (LQT3) phenotype, and a common polymorphism (p.H558R) were detected in patient an intermittent Brugada (BS) ECG pattern. study was aimed to assess the p.S216L electrical its modulation by p.H558R, identify abnormalities compatible mixed BS-LQT3 phenotype. expressed alone (S216L channels), or combination (S216L–H558R mammalian cell line (TSA201). Functional analysis included standard voltage clamp dynamic...
Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but clinical implications of these signs are not well understood.To learn more about natural history LMNA-related disease.Observational study.13 centers Italy from 2000 through 2018.164 carriers an mutation.Detailed cardiologic neurologic evaluation at study enrollment for a median 10 years follow-up.The age was 38 years, 51% participants were female. Neuromuscular manifestations...
Abstract Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player mitochondrial is dynamin-related protein 1 (DRP1), a cytosolic encoded by dynamin 1-like (DNM1L) gene, which relocalizes the outer membrane, where it assembles, oligomerizes drives division upon guanosine-5′-triphosphate (GTP) hydrolysis. Few DRP1 mutations have been described so far, with patients showing complex variable phenotype ranging from early death...
We aimed at addressing the role of late gadolinium enhancement (LGE) in arrhythmic risk stratification LMNA-associated cardiomyopathy (CMP).We present data from a multicentre national cohort patients with LMNA mutations. Of 164 screened cases, we finally enrolled baseline cardiac magnetic resonance (CMR) including LGE sequences [n = 41, age 35 ± 17 years, 51% males, mean left ventricular ejection fraction (LVEF) by echocardiogram 56%]. The primary endpoint study was follow-up (FU) occurrence...
<h3>Background</h3> Charcot-Marie-Tooth (CMT) neuropathies are very heterogeneous disorders from both a clinical and genetic point of view. The CMT genes identified so far encode different proteins that variably involved in regulating Schwann cells and/or axonal functions. However, the function most these still remains to be elucidated. <h3>Objective</h3> To characterize large cohort patients with demyelinating, axonal, intermediate forms neuropathy. <h3>Design</h3> A 131 unrelated were...
Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients their third fourth decade life. BrS as autosomal dominant trait; however, date genetic bases have been only partially understood. Indeed most mutations are located the SCN5A gene, encoding alpha-subunit Na(+) channel, but >70% still remain genetically undiagnosed. Although 21 other genes associated...
Purpose To investigate whether specific patterns of brain gray matter (GM) regional volumes and white (WM) microstructural abnormalities spinal cord atrophy occur in patients with pure complicated hereditary spastic paraplegias (HSPs). Relationships between clinical cognitive features HSP who had cervical damage were also investigated. Materials Methods This study was approved by the local ethical committees on human studies, written informed consent from all subjects obtained prior to...
The growth of U-87 or C6 gliomas co-implanted in nude mice with retroviral producer cells (VPC) expressing the herpes simplex virus-thymidine kinase (HSV-tk) gene is only partially impaired by treatment ganciclovir (GCV). effect GCV even less evident when and VPC are into rat brain. Furthermore, tumors from carrying HSV-tk not eradicated GCV, although they remain sensitive to replated vitro. These limits HSV-tk/GCV system glioma therapy may be due insufficient transfer and/or delivery cells....
Heat shock protein 27 (HSP27) mutations have been reported to cause both Charcot-Marie-Tooth disease (CMT) type 2F and distal hereditary motor neuropathy (dHMN) although never previously in a single family.To analyse clinical electrophysiological findings obtained large Sardinian family bearing the HSP27 R127W mutation.Twenty-one members of five generation studied, including thirteen affected by peroneal muscular atrophy proved heterozygous for known mutation. Twelve patients eight...
The Brugada syndrome (BrS) is an inherited disease associated with increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because NaV1.8 protein expressed more both central and peripheral nervous systems than heart, SCN10A gene not included diagnostic arrhythmia/sudden death panels vast majority cardiogenetics centres.Clinical characteristics were assessed patients harboring either SCN5A or novel variants. Genetic testing was...