MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis

Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are associated with distal arthrogryposis type 1 and lethal congenital contracture syndrome type 4. As MYBPC1 function is incompletely unders...

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Veröffentlicht in:	Human molecular genetics 2013-12, Vol.22 (24), p.4967-4977
Hauptverfasser:	Ha, Kyungsoo, Buchan, Jillian G, Alvarado, David M, McCall, Kevin, Vydyanath, Anupama, Luther, Pradeep K, Goldsmith, Matthew I, Dobbs, Matthew B, Gurnett, Christina A
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Arthrogryposis - genetics Arthrogryposis - metabolism Body Patterning - genetics Carrier Proteins - genetics Carrier Proteins - metabolism Danio rerio Disease Models, Animal Freshwater Gene Knockdown Techniques Heart - embryology Motor Activity - genetics Muscle Development - genetics Muscle Fibers, Slow-Twitch - metabolism Muscle, Skeletal - metabolism Mutation Protein Transport Sarcomeres - metabolism Zebrafish - genetics Zebrafish - metabolism
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