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B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan

Recent studies demonstrated that mutations in B3GNT1, an enzyme proposed to be involved in poly-N-acetyllactosamine synthesis, were causal for congenital muscular dystrophy with hypoglycosylation of α-dystroglycan (secondary dystroglycanopathies). Since defects in the O-mannosylation protein glycosy...

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Foilsithe in:eLife
Main Authors: Praissman, Jeremy L, Live, David H, Wang, Shuo, Ramiah, Annapoorani, Chinoy, Zoeisha S, Boons, Geert-Jan, Moremen, Kelley W, Wells, Lance
Formáid: Artigo
Teanga:Inglês
Foilsithe: eLife Sciences Publications, Ltd 2014
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4227051/
https://ncbi.nlm.nih.gov/pubmed/25279697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.03943
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