Results 21 to 30 of about 5,143 (201)

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, Kempa, Stefan, Langer, Henning Tim, Spuler, Simone   +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, Sabrina Di Fulvio, Christian Therrien, Michael Sinnreich   +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, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM   +8 more
openaire   +3 more sources

Loss of dysferlin or myoferlin results in differential defects in excitation–contraction coupling in mouse skeletal muscle

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, Jordan J. Sell, Ibrahim Tahtah, Samuel D. Kearns, Elizabeth M. McNally, Alexis R. Demonbreun   +5 more
doaj   +1 more source

Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family

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, Feng Zhu, Fengxiao Zhang, Fengxiao Zhang, Lizhi Hu, Lizhi Hu, Haowen Liu, Yahua Li   +7 more
doaj   +1 more source

Annexin A2 Mediates Dysferlin Accumulation and Muscle Cell Membrane Repair

Cells, 2020
Muscle cell plasma membrane is frequently damaged by mechanical activity, and its repair requires the membrane protein dysferlin. We previously identified that, similar to dysferlin deficit, lack of annexin A2 (AnxA2) also impairs repair of skeletal ...
Daniel C. Bittel, Goutam Chandra, Laxmi M. S. Tirunagri, Arun B. Deora, Sushma Medikayala, Luana Scheffer, Aurelia Defour, Jyoti K. Jaiswal   +7 more
doaj   +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, William E Ackerman, Dale D Vandre, John M Robinson   +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., Keep, Nicholas H., Orengo, C., Sula, Altin, Yeats, C.   +4 more
core   +1 more source

Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice

Skeletal Muscle, 2011
Background Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with β-dystroglycan.
Han Renzhi, Rader Erik P, Levy Jennifer R, Bansal Dimple, Campbell Kevin P   +4 more
doaj   +1 more source