Article
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
American journal of human genetics - 7 Mar 2013
Stevens Elizabeth, Carss Keren J, Cirak Sebahattin, Foley A Reghan, Torelli Silvia, Willer Tobias, Tambunan Dimira E, Yau Shu, Brodd Lina, Sewry Caroline A, Feng Lucy, Haliloglu Goknur, Orhan Diclehan, Dobyns William B, Enns Gregory M, Manning Melanie, Krause Amanda, Salih Mustafa A, Walsh Christopher A, Hurles Matthew, Campbell Kevin P, Manzini M Chiara, Stemple Derek, Lin Yung-Yao, Muntoni Francesco
Abstract excerpt
Mutations in several known or putative glycosyltransferases cause glycosylation defects in α-dystroglycan (α-DG), an integral component of the dystrophin glycoprotein complex. The hypoglycosylation reduces the ability of α-DG to bind laminin and other extracellular matrix ligands and is responsible for the pathogenesis of an inherited subset of muscular dystrophies known as the dystroglycanopathies. By exome and...
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