Cantagrel, Vincent

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. [electronic resource] - Cell Jul 2010 - 203-17 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1097-4172

10.1016/j.cell.2010.06.001 doi


3-Oxo-5-alpha-Steroid 4-Dehydrogenase--genetics
Abnormalities, Multiple--metabolism
Animals
Butadienes--metabolism
Consanguinity
Dolichols--metabolism
Embryo, Mammalian--metabolism
Genome-Wide Association Study
Glycosylation
Hemiterpenes--metabolism
Humans
Intellectual Disability--metabolism
Membrane Proteins--genetics
Mice
Mutation
Pentanes--metabolism
Saccharomyces cerevisiae--genetics
Saccharomyces cerevisiae Proteins--genetics
Unfolded Protein Response