Article
Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc.
Proceedings of the National Academy of Sciences of the United States of America - 20 Dec 2005
Ishikawa Hiroyuki O, Higashi Shunsuke, Ayukawa Tomonori, Sasamura Takeshi, Kitagawa Motoo, Harigaya Kenichi, Aoki Kazuhisa, Ishida Nobuhiro, Sanai Yutaka, Matsuno Kenji
Abstract excerpt
Congenital disorder of glycosylation IIc (CDG IIc), also termed leukocyte adhesion deficiency II, is a recessive syndrome characterized by slowed growth, mental retardation, and severe immunodeficiency. Recently, the gene responsible for CDG IIc was found to encode a GDP-fucose transporter. Here, we investigated the possible cause of the developmental defects in CDG IIc patients by using a Drosophila model....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.