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, Ziqiang Guan, Jennifer L. Silhavy, Stephanie Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Świeżewska, Arjan Pm de Brouwer, Peter Blümel, Jolanta Sykut-Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic‐Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R. H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al‐Gazali, Joseph G. Gleeson
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    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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