A5027062843- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Tissue Engineering and Regenerative Medicine
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Mesenchymal stem cell research
- Nuclear Structure and Function
- Adipose Tissue and Metabolism
- Muscle metabolism and nutrition
- Ion channel regulation and function
- RNA regulation and disease
- Immunodeficiency and Autoimmune Disorders
- Genetics and Neurodevelopmental Disorders
- Biotin and Related Studies
- Liver Disease Diagnosis and Treatment
- Cellular transport and secretion
- Calpain Protease Function and Regulation
- Silk-based biomaterials and applications
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- Congenital heart defects research
- Autoimmune Bullous Skin Diseases
- Hereditary Neurological Disorders
Universidade de São Paulo
2016-2025
Universidade Estadual Paulista (Unesp)
2020
Universidade Federal de Minas Gerais
2012-2020
Instituto Biológico
1994-2019
Hospital Universitário da Universidade de São Paulo
2017
Stem Cell Institute
2016
Centro de Genomas (Brazil)
2015
Columbia University Irving Medical Center
2012
Human Genome Sciences (United States)
2011
Universidade Brasil
2003
Over the past decade there have been major advances in defining genetic basis of majority congenital myopathy subtypes. However relationship between each myopathy, defined on histological grounds, and cause is complex. Many myopathies are due to mutations more than one gene, same gene can different muscle pathologies. The International Standard Care Committee for Congenital Myopathies performed a literature review consulted group experts field develop summary (1) key features common all...
The dystrophin-glycoprotein complex (DGC) serves as a link between cytoplasmic actin, the membrane and extracellular matrix of striated muscle. Genetic defects in genes encoding subset DGC proteins result muscular dystrophy secondary decrease other proteins. Caveolae are dynamic structures that have been implicated number functions including endocytosis, potocytosis signal transduction. Caveolin (VIP-21) is thought to play structural role formation non-clathrin-coated vesicles different cell...
To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. All LGMD2A 2B had a mild clinical course while those primary mutation (LGMD2C 2F) range severity. Dystrophin merosin immunofluorescence pattern was positive in all AR LGMDs. The...
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, myopathies remain unfamiliar to the majority care providers, levels patient are extremely variable. This consensus statement aims provide guidelines for The International Standard Care Committee Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds online surveys, a...
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with primary or predominant involvement the pelvic shoulder girdle musculature. More than 20 genes autosomal recessive (LGMD2A to LGMD2Q) and dominant inheritance (LGMD1A LGMD1H) have been mapped/identified date. Mutations known for six among eight mapped forms: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin-3), LGMD1D (desmin), LGMD1E (DNAJB6), more recently LGMD1F...
In Duchenne muscular dystrophy (DMD) and Becker (BMD), interventions reducing the progression of myocardial disease could affect survival.To assess effect early angiotensin-converting enzyme (ACE) inhibitor therapy in patients with normal left ventricular function on fibrosis (MF) identified cardiovascular magnetic resonance (CMR).A randomized clinical trial conducted 2 centers included 76 male DMD or BMD undergoing CMR studies a 2-year interval for MF assessment. non-intent-to-treat trial,...
We investigated 52 families of patients with facioscapulohumeral muscular dystrophy (FSHD1), including 172 (104 males and 68 females). Among 273 DNA samples which were analyzed probe p13E-11, 131 (67 64 females) shown to carry an EcoRI fragment smaller than 35 kb; 114 among them examined clinically neurologically. Results the present investigation showed that: a) there is no molecular evidence for autosomal or X-linked recessive inheritance FSHD1; b) excess affected males, explained by a...
DMD (Duchenne muscular dystrophy) is a devastating X-linked disorder characterized by progressive muscle degeneration and weakness. The use of cell therapy for the repair defective being pursued as possible treatment DMD. Mesenchymal stem cells have potential to differentiate display myogenic phenotype in vitro. Since liposuctioned human fat available large quantities, it may be an ideal source therapeutic applications. ASCs (adipose-derived cells) are able restore dystrophin expression...
Abstract Satellite cells (SCs) are the main muscle stem responsible for its regenerative capacity. In muscular dystrophies, however, a failure of process results in degeneration and weakness. To analyze effect different degrees SCs behavior, we studied adult dystrophic strains: DMD mdx , Large myd / with variable histopathological alterations. Similar were observed models, which maintained normal levels PAX7 expression, retained Pax7-positive pool, their proliferation Moreover, elevated...
The autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are a heterogeneous group of disorders progressive weakness the pelvic and shoulder girdle musculature. clinical course is characterized by great variability, ranging from severe forms with onset in first decade rapid progression resembling clinically Xp21 Duchenne dystrophy (DMD) to milder later slower course. Eight genes mapped for AR-LGMDs; they are: LGMD2A (CAPN3) at 15q, LGMD2B (dysferlin) 2p, LGMD2C (γ-SG) 13q, LGMD2D...
Abstract Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive degeneration skeletal muscle caused the absence or defective proteins. The murine model for limb-girdle dystrophy 2B (LGMD2B), SJL mice, carries deletion in dysferlin gene that causes reduction protein levels to 15% normal. mice show weakness begins at 4–6 weeks and is nearly complete 8 months age. possibility restoring improving performance cell therapy promising approach...