dc.contributor.author | Yoshida, A | |
dc.contributor.author | Kobayashi, K | |
dc.contributor.author | Manya, H | |
dc.contributor.author | Taniguchi, K | |
dc.contributor.author | Kano, H | |
dc.contributor.author | Mizuno, M | |
dc.contributor.author | Inazu, T | |
dc.contributor.author | Mitsuhashi, H | |
dc.contributor.author | Takahashi, S | |
dc.contributor.author | Takeuchi, M | |
dc.contributor.author | Herrmann, R | |
dc.contributor.author | Straub, V | |
dc.contributor.author | Talim, B | |
dc.contributor.author | Voit, T | |
dc.contributor.author | Tapaloglu, H | |
dc.contributor.author | Toda, T | |
dc.contributor.author | Endo, T | |
dc.date.accessioned | 2019-12-10T10:41:14Z | |
dc.date.available | 2019-12-10T10:41:14Z | |
dc.date.issued | 2001 | |
dc.identifier.issn | 1534-5807 | |
dc.identifier.uri | https://doi.org/10.1016/S1534-5807(01)00070-3 | |
dc.identifier.uri | http://hdl.handle.net/11655/14168 | |
dc.description.abstract | Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1) which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder. | |
dc.language.iso | en | |
dc.publisher | Cell Press | |
dc.relation.isversionof | 10.1016/S1534-5807(01)00070-3 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Cell Biology | |
dc.subject | Developmental Biology | |
dc.title | Muscular Dystrophy And Neuronal Migration Disorder Caused By Mutations In A Glycosyltransferase, Pomgnt1 | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | Developmental Cell | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 1 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 717 | |
dc.identifier.endpage | 724 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |