Ontology highlight
ABSTRACT:
SUBMITTER: Manya H
PROVIDER: S-EPMC327176 | biostudies-literature | 2004 Jan
REPOSITORIES: biostudies-literature
Manya Hiroshi H Chiba Atsuro A Yoshida Aruto A Wang Xiaohui X Chiba Yasunori Y Jigami Yoshifumi Y Margolis Richard U RU Endo Tamao T
Proceedings of the National Academy of Sciences of the United States of America 20031229 2
Defects in O-mannosylation of alpha-dystroglycan are thought to cause certain types of congenital muscular dystrophies with neuronal migration disorders. Among these muscular dystrophies, Walker-Warburg syndrome is caused by mutations in the gene encoding putative protein O-mannosyltransferase 1 (POMT1), which is homologous to yeast protein O-mannosyltransferases. However, there is no evidence that POMT1 has enzymatic activity. In this study, we first developed a method to detect protein O-manno ...[more]