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1. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Authors: Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P 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; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
Journal: Cell Date: 2010-07-15 Impact factor: 41.582

Review 2. Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.

Authors: Kimberly A Aldinger; Gina E Elsen; Victoria E Prince; Kathleen J Millen
Journal: Semin Pediatr Neurol Date: 2009-09 Impact factor: 1.636

3. Mutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster.

Authors: Erica E Rosenbaum; Eva Vasiljevic; Kimberley S Brehm; Nansi Jo Colley
Journal: PLoS Genet Date: 2014-05-01 Impact factor: 5.917

3 in total