Article
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.
Human molecular genetics - 8 Apr 2024
Karas Brittany F, Terez Kristin R, Mowla Shorbon, Battula Namarata, Flannery Kyle P, Gural Brian M, Aboussleman Grace, Mubin Numa, Manzini M Chiara
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)....
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