Results 21 to 30 of about 4,001 (193)
Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. [PDF]
PLoS ONE, 2010 Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin.
Antoine de Morrée +7 more
doaj +1 more source
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
Frontiers in Physiology, 2021 Dysferlinopathies are a group of muscle disorders caused by mutations to dysferlin, a transmembrane protein involved in membrane patching events following physical damage to skeletal myofibers.
Zoe White +7 more
doaj +1 more source
Diagnostic utility of inflammatory markers in formalin-fixed and paraffin-embedded muscle biopsies for idiopathic inflammatory myopathies. [PDF]
HistopathologyFormalin‐fixed, paraffin‐embedded (FFPE) muscle tissue supports robust immunohistochemical detection of MHC II, MxA, and p62 with performance comparable to frozen sections. This approach reliably identifies the pathological signatures of inclusion body myositis, dermatomyositis, immune‐mediated necrotizing myopathy, and overlap myositis, enhancing the ...
Suriyonplengsaeng C, Waisayarat J.
europepmc +2 more sources
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 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 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
Scientific Reports, 2021 Muscular dystrophies are disorders characterized by progressive muscle loss and weakness that are both genotypically and phenotypically heterogenous. Progression of muscle disease arises from impaired regeneration, plasma membrane instability, defective ...
David Y. Barefield +5 more
doaj +1 more source
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
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. +9 more
core +1 more source