Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Nature genetics - 1 May 2012
Willer Tobias, Lee Hane, Lommel Mark, Yoshida-Moriguchi Takako, de Bernabe Daniel Beltran Valero, Venzke David, Cirak Sebahattin, Schachter Harry, Vajsar Jiri, Voit Thomas, Muntoni Francesco, Loder Andrea S, Dobyns William B, Winder Thomas L, Strahl Sabine, Mathews Katherine D, Nelson Stanley F, Moore Steven A, Campbell Kevin P
Abstract excerpt
Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect in laminin-binding glycan synthesis1. Although mutations in six genes have been identified as...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.