Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen Van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B. Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; Memmune Yuksel-Apak; Marc Larregue; Jacqueline Vigneron; Sanda Giurgea; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G. Brunner; Hans Van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos

doi:10.1038/ng.2007.45

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, Jeroen Van Reeuwijk, Bjoern Fischer, Anna Rajab, Birgit Budde, Peter Nürnberg, Francois Foulquier, William B. Dobyns, Dulce Quelhas, Laura Vilarinho, Elisa Leao-Teles, Marie Greally, Eva Seemanova, Martina Simandlova, Mustafa Salih, Arti Nanda, Lina Basel-Vanagaite, Hulya KayseriliMemmune Yuksel-Apak, Marc Larregue, Jacqueline Vigneron, Sanda Giurgea, Dirk Lefeber, Zsolt Urban, Stephanie Gruenewald, Wim Annaert, Han G. Brunner, Hans Van Bokhoven, Ron Wevers, Eva Morava, Gert Matthijs, Lionel Van Maldergem, Stefan Mundlos

Medical Genetics

Research output: Contribution to journal › Article › peer-review

254 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	32-34
Number of pages	3
Journal	Nature Genetics
Volume	40
Issue number	1
DOIs	https://doi.org/10.1038/ng.2007.45
State	Published - Jan 2008

ASJC Scopus subject areas

Genetics

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Kornak, U., Reynders, E., Dimopoulou, A., Van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nürnberg, P., Foulquier, F., Dobyns, W. B., Quelhas, D., Vilarinho, L., Leao-Teles, E., Greally, M., Seemanova, E., Simandlova, M., Salih, M., Nanda, A., Basel-Vanagaite, L., ... Mundlos, S. (2008). Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2. Nature Genetics, 40(1), 32-34. https://doi.org/10.1038/ng.2007.45

Kornak, U, Reynders, E, Dimopoulou, A, Van Reeuwijk, J, Fischer, B, Rajab, A, Budde, B, Nürnberg, P, Foulquier, F, Dobyns, WB, Quelhas, D, Vilarinho, L, Leao-Teles, E, Greally, M, Seemanova, E, Simandlova, M, Salih, M, Nanda, A, Basel-Vanagaite, L, Kayserili, H, Yuksel-Apak, M, Larregue, M, Vigneron, J, Giurgea, S, Lefeber, D, Urban, Z, Gruenewald, S, Annaert, W, Brunner, HG, Van Bokhoven, H, Wevers, R, Morava, E, Matthijs, G, Van Maldergem, L & Mundlos, S 2008, 'Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2', Nature Genetics, vol. 40, no. 1, pp. 32-34. https://doi.org/10.1038/ng.2007.45

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title = "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2",

abstract = "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.",

author = "Uwe Kornak and Ellen Reynders and Aikaterini Dimopoulou and {Van Reeuwijk}, Jeroen and Bjoern Fischer and Anna Rajab and Birgit Budde and Peter N{\"u}rnberg and Francois Foulquier and Dobyns, {William B.} and Dulce Quelhas and Laura Vilarinho and Elisa Leao-Teles and Marie Greally and Eva Seemanova and Martina Simandlova and Mustafa Salih and Arti Nanda and Lina Basel-Vanagaite and Hulya Kayserili and Memmune Yuksel-Apak and Marc Larregue and Jacqueline Vigneron and Sanda Giurgea and Dirk Lefeber and Zsolt Urban and Stephanie Gruenewald and Wim Annaert and Brunner, {Han G.} and {Van Bokhoven}, Hans and Ron Wevers and Eva Morava and Gert Matthijs and {Van Maldergem}, Lionel and Stefan Mundlos",

note = "Funding Information: We thank W. Morelle for the MALDI-TOF glycan analysis, J. Jaeken and H. Carchon for the capillary zone electrophoresis, and C. Schlack for her brilliant technical assistance. This work was supported by Bundesministerium f{\"u}r Bildung und Forschung (BMBF) grant 01GM0623 and a grant from the Deutsche Forschungsgemeinschaft to UK, by the VIB (to E.R. and W.A.), by the Fonds Wetenschappelijk Onderzoek-Vlaanderen (grants G.0504.06 and G.0173.04 to W.A. and G.M., respectively) and by the Sixth Framework program of the European Union (Euroglycanet: LSHM-2005-512131). E.R. holds an Instituut voor de aanmoediging van innovatie door wetenschap en technologie in Vlaanderen (IWT) doctoral fellowship.",

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doi = "10.1038/ng.2007.45",

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T1 - Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

AU - Kornak, Uwe

AU - Reynders, Ellen

AU - Dimopoulou, Aikaterini

AU - Van Reeuwijk, Jeroen

AU - Fischer, Bjoern

AU - Rajab, Anna

AU - Budde, Birgit

AU - Nürnberg, Peter

AU - Foulquier, Francois

AU - Dobyns, William B.

AU - Quelhas, Dulce

AU - Vilarinho, Laura

AU - Leao-Teles, Elisa

AU - Greally, Marie

AU - Seemanova, Eva

AU - Simandlova, Martina

AU - Salih, Mustafa

AU - Nanda, Arti

AU - Basel-Vanagaite, Lina

AU - Kayserili, Hulya

AU - Yuksel-Apak, Memmune

AU - Larregue, Marc

AU - Vigneron, Jacqueline

AU - Giurgea, Sanda

AU - Lefeber, Dirk

AU - Urban, Zsolt

AU - Gruenewald, Stephanie

AU - Annaert, Wim

AU - Brunner, Han G.

AU - Van Bokhoven, Hans

AU - Wevers, Ron

AU - Morava, Eva

AU - Matthijs, Gert

AU - Van Maldergem, Lionel

AU - Mundlos, Stefan

N1 - Funding Information: We thank W. Morelle for the MALDI-TOF glycan analysis, J. Jaeken and H. Carchon for the capillary zone electrophoresis, and C. Schlack for her brilliant technical assistance. This work was supported by Bundesministerium für Bildung und Forschung (BMBF) grant 01GM0623 and a grant from the Deutsche Forschungsgemeinschaft to UK, by the VIB (to E.R. and W.A.), by the Fonds Wetenschappelijk Onderzoek-Vlaanderen (grants G.0504.06 and G.0173.04 to W.A. and G.M., respectively) and by the Sixth Framework program of the European Union (Euroglycanet: LSHM-2005-512131). E.R. holds an Instituut voor de aanmoediging van innovatie door wetenschap en technologie in Vlaanderen (IWT) doctoral fellowship.

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AB - 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.

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ER -

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

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