Article

Glycosyltransferase POMGNT1 deficiency affects N-cadherin-mediated cell-cell adhesion

2020-09-10

Abstract excerpt

Defects in protein O -mannosylation lead to severe congenital muscular dystrophies known as α-dystroglycanopathy. A hallmark of these diseases is the loss of the O -mannose-bound matriglycan on α-dystroglycan, which leads to a reduction in cell adhesion to the extracellular matrix. Mutations in protein O -mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGNT1), which is crucial for the elongation of O -mannos...

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Literature Corpus work: 3bfad315-fec6-57ca-af31-7c02c5149ba1
DOI: 10.1101/2020.09.09.289306

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