Results 51 to 60 of about 2,287 (160)
Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins
BMC Evolutionary Biology, 2010 Background The ferlin gene family possesses a rare and identifying feature consisting of multiple tandem C2 domains and a C-terminal transmembrane domain.
Lek Monkol +3 more
doaj +1 more source
BMC Neurology, 2022 Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.
Ning Wang +11 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan +5 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2016 Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb.
Helena Escobar +4 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2015 Recombinant adeno-associated virus (rAAV) is currently the best vector for gene delivery into the skeletal muscle. However, the 5-kb packaging size of this virus is a major obstacle for large gene transfer.
Marina Pryadkina +6 more
doaj +1 more source
The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions
Frontiers in Cell and Developmental Biology, 2021 Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair ...
Océane Ballouhey +12 more
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Intramuscular delivery of rAAV5.DYSF.
, 2012 4–6 week old dysferlin deficient mice were injected into the tibialis anterior muscle with 1011 vg of rAAV5.DYSF (n = 4 per group). Endpoint analysis occurred at 4 weeks post gene transfer and analyzed by histology, immunofluorescence and western blot ...
Chrystal L. Montgomery (157807) +10 more
core +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
rAAV5.DYSF delivered directly to Dysf−/− diaphragm corrects tetanic force and resistance to fatigue.
, 2012 The diaphragm of 10 week old dysferlin deficient mice (129-Dysf−/−) (n = 6 per group) was treated with 1011 vg of rAAV5.DYSF via a peritoneal incision.
Chrystal L. Montgomery (157807) +10 more
core +1 more source
PLoS ONE, 2011 BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary ...
Eduard Gallardo +8 more
doaj +1 more source