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
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H
+
-ATPase subunit ATP6V0A2
Nature Genetics, Volume 40, No. 1, Year 2008
Notification
URL copied to clipboard!
Description
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function. © 2008 Nature Publishing Group.
Authors & Co-Authors
Kornak, Uwe
Germany, Berlin
Charité – Universitätsmedizin Berlin
Reynders, Ellen
Belgium, Leuven
Ku Leuven
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Dimopoulou, Aikaterini
Germany, Berlin
Charité – Universitätsmedizin Berlin
van Reeuwijk, Jeroen V.
Netherlands, Nijmegen
Radboud University Medical Center
Fischer, Björn
Germany, Berlin
Charité – Universitätsmedizin Berlin
Rajab, Anna A.
Oman, Muscat
Ministry of Health Oman
Budde, Birgit Susanne
Germany, Koln
Medizinische Fakultät
Nürnberg, Peter
Germany, Koln
Medizinische Fakultät
Foulquier, Francois
Belgium, Leuven
Ku Leuven
Dobyns, William B.
United States, Chicago
The University of Chicago
Quelhas, Dulce
Portugal, Porto
Institute of Medical Genetics Jacinto de Magalhães
Vilarinho, Laura
Portugal, Porto
Institute of Medical Genetics Jacinto de Magalhães
Leão, Elisa
Portugal, Porto
Sao Joao Hospital
Greally, Marie T.
Bahrain, Manama
Arabian Gulf University
Seemanova, Eva
Czech Republic, Prague
Fakultní Nemocnice V Motole
Simandlova, Martina
Czech Republic, Prague
Fakultní Nemocnice V Motole
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Nanda, Arti
Kuwait
Al-sabah Hospital
Basel-Vanagaite, Lina
Israel, Petah Tiqwa
Schneider Childrens Medical Center Israel
Kayserili, Hülya U.
Turkey, Istanbul
Istanbul Üniversitesi
Yuksel-Apak, Memmune
Turkey, Istanbul
Istanbul Üniversitesi
Larregue, Marc
France, Paris
Hôpital Armand-trousseau
Vigneron, Jacqueline
France, Nancy
Chu de Nancy
Giurgea, Sanda
Belgium, La Louviere
Centre Hospitalier Universitaire de Tivoli
Lefeber, Dirk J.
Netherlands, Nijmegen
Radboud University Medical Center
Urban, Zsolt
United States, St. Louis
Washington University in St. Louis
Gruenewald, Stephanie
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Annaert, Wim
Belgium, Leuven
Ku Leuven
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Brunner, Han G.
Netherlands, Nijmegen
Radboud University Medical Center
van Bokhoven, Hans
Netherlands, Nijmegen
Radboud University Medical Center
Wevers, Ron Allan
Netherlands, Nijmegen
Radboud University Medical Center
Morava, Éva
Netherlands, Nijmegen
Radboud University Medical Center
Matthijs, Gert L.
Belgium, Leuven
Ku Leuven
Van-Maldergem, Lionel
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Mundlos, Stefan
Germany, Berlin
Charité – Universitätsmedizin Berlin
Statistics
Citations: 340
Authors: 35
Affiliations: 21
Identifiers
Doi:
10.1038/ng.2007.45
ISSN:
10614036
e-ISSN:
15461718