Results 51 to 60 of about 4,634 (224)
Dysferlin-null mice exhibit reduced sensitivity to the blood pressure (BP)-lowering effects of losartan. [PDF]
, 2019 Systolic, diastolic and mean arterial blood pressure measurements (MABP) in dysferlin-null mice treated acutely (6 weeks) with a 0.6g/L dose of losartan (A), and EC50 of losartan dose response curves in both WT and dysferlin-null cohorts (B).
Arash Y. Tehrani (7208330) +6 more
core +1 more source
Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation. [PDF]
PLoS ONE, 2011 Dysferlin is a multi-C2 domain transmembrane protein involved in a plethora of cellular functions, most notably in skeletal muscle membrane repair, but also in myogenesis, cellular adhesion and intercellular calcium signaling.
Sabrina Di Fulvio +3 more
doaj +1 more source
FER-1/Dysferlin promotes cholinergic signaling at the neuromuscular junction in C. elegans and mice
Biology Open, 2013 Summary Dysferlin is a member of the evolutionarily conserved ferlin gene family. Mutations in Dysferlin lead to Limb Girdle Muscular Dystrophy 2B (LGMD2B), an inherited, progressive and incurable muscle disorder.
Predrag Krajacic +4 more
doaj +1 more source
Dysferlin-deficiency has greater impact on function of slow muscles, compared with fast, in aged BLAJ mice [PDF]
, 2019 Dysferlinopathies are a form of muscular dystrophy caused by gene mutations resulting in deficiency of the protein dysferlin. Symptoms manifest later in life in a muscle specific manner, although the pathomechanism is not well understood.
Gavin J. Pinniger (455311) +9 more
core +1 more source
PLoS ONE, 2012 Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is ...
William Lostal +13 more
doaj +1 more source
Frontiers in Neurology, 2021 Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang +5 more
doaj +1 more source
Dysferlin and Animal Models for Dysferlinopathy
Journal of Toxicologic Pathology, 2012 Dysferlin (DYSF) is involved in the membrane-repair process, in the intracellular vesicle system and in T-tubule development in skeletal muscle. It interacts with mitsugumin 53, annexins, caveolin-3, AHNAK, affixin, S100A10, calpain-3, tubulin and dihydropyridine receptor.
Kobayashi, Kinji +3 more
openaire +3 more sources
Dysferlin-peptides redirect mutant dysferlin in transfected C2C12 cells. [PDF]
, 2012 C2C12 cells were transfected with either GFP-tagged wildtype human dysferlin cDNA or missense-mutated dysferlin cDNA DYSF p.G299R or p.L1341P. Transfected cells were treated with TAT-labeled dysferlin-peptides corresponding to the mutation.
Peter T. Daniel (118346) +7 more
core +1 more source
Expression of myoferlin in human airway epithelium and its role in cell adhesion and zonula occludens-1 expression. [PDF]
PLoS ONE, 2012 Normal airway epithelial barrier function is maintained by cell-cell contacts which require the translocation of adhesion proteins at the cell surface, through membrane vesicle trafficking and fusion events.
Cleo Leung +3 more
doaj +1 more source
Characterisation of the dysferlin skeletal muscle promoter [PDF]
European Journal of Human Genetics, 2003 Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. This paper describes the preliminary characterisation of the human dysferlin promoter. The transcriptional start site of dysferlin has been mapped using 5' RACE PCR,
Foxton RM, Laval SH, Bushby KMD
openaire +3 more sources