Article

Removal of <i>pomt1</i> in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes

2022-10-15

Abstract excerpt

Biallelic mutations in Protein O-mannosyltransferase 1 ( POMT1 ) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies. POMT1 is a glycosyltransferase responsible for the attachment of a functional glycan mediating interactions between the transmembrane glycoprotein dystroglycan and its binding partners in the extracellular matrix (ECM). Disrup...

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Literature Corpus work: 9780368d-e5f7-573c-b488-b2d3c486d288
DOI: 10.1101/2022.10.15.512359

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