ArticleHuman genetics2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 93 citations in OpenAlex.
- Variant-specific RNA testing resolves variants of uncertain significance in exome testing.BMC genomics · 2026Article
- Abnormal von Willebrand factor multimer pattern withoutBlood vessels, thrombosis & hemostasis · 2026Article
- Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.Cellular and molecular life sciences : CMLS · 2024Article
- Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.Molecular biology reports · 2024Article
- The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa.International journal of molecular sciences · 2024Article
- A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.Irish journal of medical science · 2023Article
- Characterization of a PIP Binding Site in the N-Terminal Domain of V-ATPase a4 and Its Role in Plasma Membrane Association.International journal of molecular sciences · 2023Article
- The cytosolic N-terminal domain of V-ATPase a-subunits is a regulatory hub targeted by multiple signals.Frontiers in molecular biosciences · 2023Review
- Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.Frontiers in molecular neuroscience · 2023Review
- The a subunit isoforms of vacuolar-type proton ATPase exhibit differential distribution in mouse perigastrulation embryos.Scientific reports · 2022Article
- Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.Journal of inherited metabolic disease · 2021Article
- Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.PLoS genetics · 2021Article
- Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.Advances in experimental medicine and biology · 2021Review
- V-ATPase subunit B plays essential roles in the molting process of the Chinese mitten crab,Biology open · 2020Article
- Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.Molecular genetics & genomic medicine · 2019Review
- SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.Journal of human genetics · 2019Article
- A NovelTurkish journal of haematology : official journal of Turkish Society of Haematology · 2019Article
- De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.Brain : a journal of neurology · 2018Article
- Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPaseThe Journal of biological chemistry · 2018Article
- The curious case of vacuolar ATPase: regulation of signaling pathways.Molecular cancer · 2018Review
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Authors and funding
25 authors at 16 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debré type, and wrinkly skin syndrome (WSS). The ATP6V0A2 gene encodes the a2 subunit of the V-type H(+)-ATPase, playing a role in proton translocation, and possibly also in membrane fusion. Here, we describe a highly variable phenotype in 13 patients with ARCL2, including the oldest affected individual described so far, who showed strikingly progressive dysmorphic features and heterotopic calcifications. In these individuals we identified 17 ATP6V0A2 mutations, 14 of which are novel. Furthermore, we demonstrate a localization of ATP6V0A2 at the Golgi-apparatus and a loss of the mutated ATP6V0A2 protein in patients' dermal fibroblasts. Investigation of brefeldin A-induced Golgi collapse in dermal fibroblasts as well as in HeLa cells deficient for ATP6V0A2 revealed a delay, which was absent in cells deficient for the ARCL-associated proteins GORAB or PYCR1. Furthermore, fibroblasts from patients with ATP6V0A2 mutations displayed elevated TGF-β signalling and increased TGF-β1 levels in the supernatant. Our current findings expand the genetic and phenotypic spectrum and suggest that, besides the known glycosylation defect, alterations in trafficking and signalling processes are potential key events in the pathogenesis of ATP6V0A2-related ARCL.
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