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  Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

Guillard, M., Dimopoulou, A., Fischer, B., Morava, E., Lefeber, D. J., Kornak, U., et al. (2009). Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1792, 903-914. doi:10.1016/j.bbadis.2008.12.009.

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 Creators:
Guillard, Mailys, Author
Dimopoulou, Aikaterini, Author
Fischer, Björn, Author
Morava, Eva, Author
Lefeber, Dirk J., Author
Kornak, Uwe1, Author           
Wevers, Ron A., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Glycosylation; Cutis laxa; V-ATPase; Congenital disorders of glycosylation; OMIM 219200; Apolipoprotein C III
 Abstract: Glycosylation of proteins is one of the most important post-translational modifications. Defects in the glycan biosynthesis result in congenital malformation syndromes, also known as congenital disorders of glycosylation (CDG). Based on the iso-electric focusing patterns of plasma transferrin and apolipoprotein C-III a combined defect in N- and O-glycosylation was identified in patients with autosomal recessive cutis laxa type II (ARCL II). Disease-causing mutations were identified in the ATP6V0A2 gene, encoding the a2 subunit of the vacuolar H+-ATPase (V-ATPase). The V-ATPases are multi-subunit, ATP-dependent proton pumps located in membranes of cells and organels. In this article, we describe the structure, function and regulation of the V-ATPase and the phenotypes currently known to result from V-ATPase mutations. A clinical overview of cutis laxa syndromes is presented with a focus on ARCL II. Finally, the relationship between ATP6V0A2 mutations, the glycosylation defect and the ARCLII phenotype is discussed.

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Language(s): eng - English
 Dates: 2009-09
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
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Title: Biochimica et Biophysica Acta - Molecular Basis of Disease
Source Genre: Journal
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Pages: - Volume / Issue: 1792 Sequence Number: - Start / End Page: 903 - 914 Identifier: ISSN: 0925-4439