Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Cell, Volume 142, No. 2, Year 2010
Notification
URL copied to clipboard!
Description
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs). We describe a new type of CDG caused by mutations in the steroid 5α-reductase type 3 (SRD5A3) gene. Patients have mental retardation and ophthalmologic and cerebellar defects. We found that SRD5A3 is necessary for the reduction of the alpha-isoprene unit of polyprenols to form dolichols, required for synthesis of dolichol-linked monosaccharides, and the oligosaccharide precursor used for N-glycosylation. The presence of residual dolichol in cells depleted for this enzyme suggests the existence of an unexpected alternative pathway for dolichol de novo biosynthesis. Our results thus suggest that SRD5A3 is likely to be the long-sought polyprenol reductase and reveal the genetic basis of one of the earliest steps in protein N-linked glycosylation. © 2010 Elsevier Inc.
Authors & Co-Authors
Cantagrel, Vincent
United States, Chevy Chase
Howard Hughes Medical Institute
Lefeber, Dirk J.
Netherlands, Nijmegen
Radboud University Medical Center
Ng, Bobby George
United States, San Diego
Sanford Burnham Prebys Medical Discovery Institute
Guan, Ziqiang
United States, Durham
Duke University Medical Center
Silhavy, Jennifer L.
United States, Chevy Chase
Howard Hughes Medical Institute
Bielas, Stephanie L.
United States, Chevy Chase
Howard Hughes Medical Institute
Lehle, Ludwig
Germany, Regensburg
Universität Regensburg
Hombauer, Hans
United States, San Diego
Ludwig Institute for Cancer Research San Diego
Adamowicz, Maciej
Poland, Warsaw
Instytut Pomnik - Centrum Zdrowia Dziecka
Swiezewska, Ewa
Poland, Warsaw
Institute of Biochemistry and Biophysics of the Polish Academy of Sciences
de Brouwer, Arjan P.M.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Blümel, Peter
Austria, Vienna
Gottfried Von Preyer'sches Kinderspital
Sykut-Cegielska, Jolanta
Poland, Warsaw
Instytut Pomnik - Centrum Zdrowia Dziecka
Houliston, Scott
United States, San Diego
Sanford Burnham Prebys Medical Discovery Institute
Swistun, Dominika
United States, Chevy Chase
Howard Hughes Medical Institute
Ali, Bassam R.
United Arab Emirates, Al Ain
United Arab Emirates University
Dobyns, William B.
United States, Chicago
The University of Chicago
Babović-Vuksanović, Dusica
United States, Rochester
Mayo Clinic
van Bokhoven, Hans
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Netherlands, Nijmegen
Donders Institute for Brain, Cognition and Behaviour
Wevers, Ron Allan
Netherlands, Nijmegen
Radboud University Medical Center
Raetz, Christian R.H.
United States, Durham
Duke University Medical Center
Freeze, Hudson H.
United States, San Diego
Sanford Burnham Prebys Medical Discovery Institute
Morava, Éva
Netherlands, Nijmegen
Radboud University Medical Center
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Gleeson, Joseph G.
United States, Chevy Chase
Howard Hughes Medical Institute
Statistics
Citations: 256
Authors: 25
Affiliations: 14
Identifiers
Doi:
10.1016/j.cell.2010.06.001
ISSN:
00928674
Research Areas
Genetics And Genomics