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

Cell

Volumn 142, Issue 2, 2010, Pages 203-217

  Cantagrel, Vincent ^a   Lefeber, Dirk J ^b   Ng, Bobby G ^e   Guan, Ziqiang ^f   Silhavy, Jennifer L ^a   Bielas, Stephanie L ^a   Lehle, Ludwig ^g   Hombauer, Hans ^h   Adamowicz, Maciej ⁱ   Swiezewska, Ewa ^j   De Brouwer, Arjan P ^c   Blümel, Peter ^k   Sykut Cegielska, Jolanta ⁱ   Houliston, Scott ^e   Swistun, Dominika ^a   Ali, Bassam R ^l   Dobyns, William B ^m   Babovic Vuksanovic, Dusica ⁿ   van Bokhoven, Hans ^c,d   Wevers, Ron A ^b   Raetz, Christian R H ^f   Freeze, Hudson H ^e   Morava, Éva ^b   Al Gazali, Lihadh ^l   Gleeson, Joseph G ^a   more..

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e BURNHAM INSTITUTE   (United States)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

^g UNIVERSITY OF REGENSBURG   (Germany)

^h LUDWIG INSTITUTE FOR CANCER RESEARCH   (United States)

ⁱ CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^j INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^k Gottfried von Preyer'sches Kinderspital   (Austria)

^l UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^m UNIVERSITY OF CHICAGO   (United States)

ⁿ MAYO CLINIC   (United States)

more..

Author keywords

Chembio; Humdisease

Indexed keywords

DOLICHOL; POLYPRENOL; STEROID 5ALPHA REDUCTASE; STEROID 5ALPHA REDUCTASE 3; UNCLASSIFIED DRUG;

ARTICLE; BIOSYNTHESIS; BRAIN MALFORMATION; CONGENITAL GLYCOSYLATION DISORDER; EYE MALFORMATION; GENETIC DISORDER; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; MUTATION; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION;

EUKARYOTA;

EID: 77955057089     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cell.2010.06.001     Document Type: Article

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