SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    July 2010 in “ Cell ”
    Vincent Cantagrel, Dirk Lefeber, Bobby G. Ng … Joseph G. Gleeson
    Studysummary This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
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