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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Xehetasun bibliografikoak

Egile Nagusiak:	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
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2018-05-01
Saila:	Skeletal Muscle
Gaiak:	TRAPPC11 GOSR2 Golgi Dystroglycanopathy Dystroglycan Muscular dystrophy
Sarrera elektronikoa:	http://link.springer.com/article/10.1186/s13395-018-0163-0
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