"Dysferlin" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES.
- Fer-1-like Protein 1
- Fer 1 like Protein 1
Below are MeSH descriptors whose meaning is more general than "Dysferlin".
Below are MeSH descriptors whose meaning is more specific than "Dysferlin".
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Below are the most recent publications written about "Dysferlin" by people in Profiles.
Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle. Sci Rep. 2021 08 05; 11(1):15865.
Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption. Am J Pathol. 2016 06; 186(6):1610-22.
Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy. Hum Mol Genet. 2015 Oct 15; 24(20):5711-9.
Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. Am J Pathol. 2014 Jan; 184(1):248-59.
Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion. J Biol Chem. 2011 Mar 04; 286(9):7379-88.
Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy. Hum Mol Genet. 2011 Feb 15; 20(4):779-89.
Diaphragm displays early and progressive functional deficits in dysferlin-deficient mice. Muscle Nerve. 2010 Jul; 42(1):22-9.
Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy. Am J Pathol. 2009 Nov; 175(5):1817-23.
Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. J Biol Chem. 2007 Oct 19; 282(42):30745-53.
Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J Biol Chem. 2002 Jun 21; 277(25):22883-8.