Results 31 to 40 of about 6,430 (245)
Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cells. [PDF]
PLoS ONE, 2011 Dysferlin was previously identified as a key player in muscle membrane repair and its deficiency leads to the development of muscular dystrophy and cardiomyopathy. However, little is known about the oligomerization of this protein in the plasma membrane.
Li Xu +5 more
doaj +1 more source
Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]
, 2020 Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib +3 more
core +2 more sources
Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. [PDF]
PLoS ONE, 2010 Dysferlin is a type II transmembrane protein implicated in surface membrane repair in muscle. Mutations in dysferlin lead to limb girdle muscular dystrophy 2B, Miyoshi Myopathy and distal anterior compartment myopathy.
Bilal A Azakir +3 more
doaj +1 more source
Dysferlin and muscle membrane repair [PDF]
Current Opinion in Cell Biology, 2007 The ability to repair membrane damage is conserved across eukaryotic cells and is necessary for the cells to survive a variety of physiological and pathological membrane disruptions. Membrane repair is mediated by rapid Ca(2+)-triggered exocytosis of various intracellular vesicles, such as lysosomes and enlargeosomes, which lead to the formation of a ...
Renzhi, Han, Kevin P, Campbell
openaire +2 more sources
Dysferlin mutations and mitochondrial dysfunction [PDF]
Neuromuscular Disorders, 2016 Dysferlinopathies are caused by mutations in the DYSF gene and patients may present with proximal or distal myopathy. Dysferlin is responsible for membrane resealing, and mutations may result in a defect in membrane repair following mechanical or chemical stress, causing an influx of Ca2+.
Vincent AE +8 more
openaire +3 more sources
Frontiers in Genetics, 2021 BackgroundNeuromuscular disorders (NMD), many of which are hereditary, affect muscular function. Due to advances in high-throughput sequencing technologies, the diagnosis of hereditary NMDs has dramatically improved in recent years.Methods and ResultsIn ...
Feng Zhu +7 more
doaj +1 more source
Myopathy With Exercise-Induced Intolerance due to Novel Biallelic Variants in OBSCN-A Clinical, Morphological and Molecular Analysis. [PDF]
Neuropathol Appl NeurobiolThe phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Krämer-Best HH +8 more
europepmc +2 more sources
International Journal of Molecular Sciences, 2023 Quantitative surface plasmon resonance (SPR) was utilized to determine binding strength and calcium dependence of direct interactions between dysferlin and proteins likely to mediate skeletal muscle repair, interrupted in limb girdle muscular dystrophy ...
D. Drescher +3 more
semanticscholar +1 more source
Trophoblast cell fusion and differentiation are mediated by both the protein kinase C and a pathways. [PDF]
PLoS ONE, 2013 The syncytiotrophoblast of the human placenta is an epithelial barrier that interacts with maternal blood and is a key for the transfer of nutrients and other solutes to the developing fetus.
Waka Omata +3 more
doaj +1 more source
Crystal structures of the human Dysferlin inner DysF domain [PDF]
, 2014 Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R. +4 more
core +1 more source