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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Nature Genetics, Volume 44, No. 5, Year 2012
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Description
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant α-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated α-dystroglycan. These results implicate ISPD in α-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates. © 2012 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Roscioli, Tony
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Australia, Sydney
Unsw Sydney
Kamsteeg, Erik Jan
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Buysse, Karen
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Maystadt, Isabelle
Belgium, Loverval
Institut de Morphologie Pathologique, Loverval
van Reeuwijk, Jeroen V.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Van Den Elzen, Christa
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
van Beusekom, Ellen
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Riemersma, Moniek
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Netherlands, Nijmegen
Radboud University Medical Center
Pfundt, Rolph R.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Vissers, Lisenka E.L.M.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Schraders, Margit
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Altunoğlu, Umut
Turkey, Istanbul
İstanbul Tıp Fakültesi
Buckley, Michael Francis
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Brunner, Han G.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Grisart, Bernard
Belgium, Loverval
Institut de Morphologie Pathologique, Loverval
Zhou, Huiqing
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Veltman, J. A.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Gilissen, Christian
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Mancini, Grazia Maria Simonetta
Netherlands, Rotterdam
Erasmus Mc
Delrée, Paul
Belgium, Loverval
Institut de Morphologie Pathologique, Loverval
Willemsen, M. A.A.P.
Netherlands, Nijmegen
Radboud University Medical Center
Ramadža, Danijela Petković
Croatia, Zagreb
Kbc Zagreb
Chitayat, David A.
Canada, Toronto
University of Toronto
Canada, Toronto
Hospital for Sick Children University of Toronto
Bennett, Christopher P.
United Kingdom, Leeds
St James's University Hospital
Sheridan, Eamonn G.
United Kingdom, Leeds
St James's University Hospital
Peeters, Els A.J.
Netherlands, Leidschendam
Hmc
Tan-Sindhunata, Gita M.B.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
De Die-Smulders, Christine
Netherlands, Maastricht
Universiteit Maastricht
Devriendt, Koenraad
Belgium, Leuven
Ku Leuven
Kayserili, Hülya U.
Turkey, Istanbul
İstanbul Tıp Fakültesi
El-Hashash, Osama Abd El Fattah
Kuwait, Safat
Farwania Hospital
Egypt, Cairo
Egyptian Ministry of Health and Population
Stemple, Derek L.
United Kingdom, London
Wellcome Trust
Lefeber, Dirk J.
Netherlands, Nijmegen
Radboud University Medical Center
Lin, Yung Yao
United Kingdom, London
Wellcome Trust
van Bokhoven, Hans
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Statistics
Citations: 159
Authors: 35
Affiliations: 17
Identifiers
Doi:
10.1038/ng.2253
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Disability
Genetics And Genomics
Health System And Policy