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

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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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: BMC 2018-05-01
Series:Skeletal Muscle
Subjects:
TRAPPC11
GOSR2
Golgi
Dystroglycanopathy
Dystroglycan
Muscular dystrophy
Online Access:http://link.springer.com/article/10.1186/s13395-018-0163-0

Internet

http://link.springer.com/article/10.1186/s13395-018-0163-0

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