TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

Abstract Background Transport protein particle (TRAPP) is a supramolecular protein complex that functions in localizing proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in muscle disease by virtue of homozygous and compound heterozygous deleterious mutations being identifi...

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Bibliografiske detaljer

Principais autores:	Austin A. Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2018-05-01
Serier:	Skeletal Muscle
Fag:	TRAPPC11 GOSR2 Golgi Dystroglycanopathy Dystroglycan Muscular dystrophy
Online adgang:	http://link.springer.com/article/10.1186/s13395-018-0163-0
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