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

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 identified in in...

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Библиографические подробности
Опубликовано в: :Skelet Muscle
Главные авторы: Larson, Austin A., Baker, Peter R., Milev, Miroslav P., Press, Craig A., Sokol, Ronald J., Cox, Mary O., Lekostaj, Jacqueline K., Stence, Aaron A., Bossler, Aaron D., Mueller, Jennifer M., Prematilake, Keshika, Tadjo, Thierry Fotsing, Williams, Charles A., Sacher, Michael, Moore, Steven A.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5984345/
https://ncbi.nlm.nih.gov/pubmed/29855340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13395-018-0163-0
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