Ontology highlight
ABSTRACT:
SUBMITTER: Song Y
PROVIDER: S-EPMC2966427 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Song Yuanquan Y Willer Jason R JR Scherer Paul C PC Panzer Jessica A JA Kugath Amy A Skordalakes Emmanuel E Gregg Ronald G RG Willer Gregory B GB Balice-Gordon Rita J RJ
PloS one 20101029 10
Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some aspects of CDG IIc pathogenesis, the molecular and cellular mechanisms remain poorly understood. We have identified a zebrafish mutant slytherin (srn), which harbors a missense point mutation in GDP-mannose 4,6 dehydratase (GMDS), the rate-limiting ...[more]