| The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa. | The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa.
Chu A, Yao Y, Glibowicka M, Deber CM, Manolson MF., Free PMC Article | 06/21/2024 |
| Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa. | Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Zhang Y, Sun M, Li N, Zhao Y, Zhang F, Shu J, Liu Y, Cai C. | 06/16/2024 |
| Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families. | Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Zaman Q, Iftikhar A, Rehman G, Khan Q, Najumuddin, Jan A, Khan J, Anas M, Laiba, Umair M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Jelani M. | 10/4/2023 |
| Cancer-associated V-ATPase induces delayed apoptosis of protumorigenic neutrophils. | Cancer-associated V-ATPase induces delayed apoptosis of protumorigenic neutrophils.
Ibrahim SA, Kulshrestha A, Katara GK, Riehl V, Sahoo M, Beaman KD., Free PMC Article | 02/6/2021 |
| ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. | ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Beyens A, Moreno-Artero E, Bodemer C, Cox H, Gezdirici A, Yilmaz Gulec E, Kahloul N, Khau Van Kien P, Ogur G, Harroche A, Vasse M, Salhi A, Symoens S, Hadj-Rabia S, Callewaert B. | 09/12/2020 |
| Exome sequence analysis for the proband led to the identification of novel homozygous frameshift c.2085_2088del (p.(Ser695Argfs*12)) in ATP6V0A2, within the linked region, in the two affected siblings. | A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing.
Karacan İ, Diz Küçükkaya R, Karakuş FN, Solakoğlu S, Tolun A, Hançer VS, Turanlı ET., Free PMC Article | 03/16/2019 |
| Low ATP6V0A2 expression is associated with asthenozoospermia. | Proteomic analyses reveal lower expression of TEX40 and ATP6V0A2 proteins related to calcium ion entry and acrosomal acidification in asthenozoospermic males.
Sinha A, Singh V, Singh S, Yadav S. | 03/2/2019 |
| Data suggest that missense mutations in ATP6V0A2 and ATP6V0A4 that cause either cutis laxa or distal renal tubular acidosis result in enzyme subunits that are unstable, retained in endoplasmic reticulum (rather than transported to Golgi and cell membrane), and quickly degraded by proteasomes despite full glycosylation. | Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.
Esmail S, Kartner N, Yao Y, Kim JW, Reithmeier RAF, Manolson MF., Free PMC Article | 12/22/2018 |
| Study shows how tumor associated a2-isoform V-ATPase can induce neutrophil migration by stimulating autocrine secretion of IL-8, suggesting a mechanism for the creation of a level of inflammation that favors cancer growth. | Cancer derived peptide of vacuolar ATPase 'a2' isoform promotes neutrophil migration by autocrine secretion of IL-8.
Ibrahim SA, Kulshrestha A, Katara GK, Amin MA, Beaman KD., Free PMC Article | 05/26/2018 |
| In cisplatin resistant cells, shRNA mediated inhibition of V-ATPase-V0a2 enhanced sensitivity towards both cisplatin and carboplatin. | Selective inhibition of tumor cell associated Vacuolar-ATPase 'a2' isoform overcomes cisplatin resistance in ovarian cancer cells.
Kulshrestha A, Katara GK, Ginter J, Pamarthy S, Ibrahim SA, Jaiswal MK, Sandulescu C, Periakaruppan R, Dolan J, Gilman-Sachs A, Beaman KD., Free PMC Article | 11/4/2017 |
| a2V deficiency disrupts the endolysosomal route in Notch and TGF signaling, thereby impairing mammary gland development. | The V-ATPase a2 isoform controls mammary gland development through Notch and TGF-β signaling.
Pamarthy S, Mao L, Katara GK, Fleetwood S, Kulshreshta A, Gilman-Sachs A, Beaman KD., Free PMC Article | 09/2/2017 |
| Senescence-associated impaired expression of ATP6V0A2 triggers changes in Golgi structure and glycosylation in old fibroblasts, which demonstrates a role of ATP6V0A2 in cellular senescence program. | Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells.
Udono M, Fujii K, Harada G, Tsuzuki Y, Kadooka K, Zhang P, Fujii H, Amano M, Nishimura S, Tashiro K, Kuhara S, Katakura Y., Free PMC Article | 09/24/2016 |
| the results from this study demonstrate that the a2-subunit isoform of Vacuolar ATPase regulates Notch signaling in breast tumor cells | The Vacuolar ATPase a2-subunit regulates Notch signaling in triple-negative breast cancer cells.
Pamarthy S, Jaiswal MK, Kulshreshtha A, Katara GK, Gilman-Sachs A, Beaman KD., Free PMC Article | 08/13/2016 |
| The granule-associated a2V isoform has a role in maintaining a pH gradient within the cell between the cytosol and granules in neutrophils. | Expression and role of a2 vacuolar-ATPase (a2V) in trafficking of human neutrophil granules and exocytosis.
Gilman-Sachs A, Tikoo A, Akman-Anderson L, Jaiswal M, Ntrivalas E, Beaman K. | 08/8/2015 |
| Case Report: novel ATP6V0A2 mutations in an infant with cutis laxa. | Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.
Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Pezzani L, Calzavara-Pinton P, Colombi M. | 01/24/2015 |
| Expression of a2 vacuolar ATPase in spermatozoa is associated with semen quality and chemokine-cytokine profiles in infertile men. | Expression of a2 vacuolar ATPase in spermatozoa is associated with semen quality and chemokine-cytokine profiles in infertile men.
Ota K, Jaiswal MK, Ramu S, Jeyendran R, Kwak-Kim J, Gilman-Sachs A, Beaman KD., Free PMC Article | 04/5/2014 |
| Mutations in the ATP6V0A2 gene is associated with autosomal recessive cutis laxa. | Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. | 01/12/2013 |
| A mechanism is described by which tumor-associated macrophages mature via a nontraditional cytokine-like signal, the a2NTD peptide. | Tumor-associated a2 vacuolar ATPase acts as a key mediator of cancer-related inflammation by inducing pro-tumorigenic properties in monocytes.
Kwong C, Gilman-Sachs A, Beaman K. | 03/12/2011 |
| Data show that the V-ATPase a2-subunit might actually be embedded into and/or closely associated with membrane phospholipids even in the absence of any obvious predicted transmembrane segments. | N-terminal domain of the V-ATPase a2-subunit displays integral membrane protein properties.
Merkulova M, McKee M, Dip PV, Grüber G, Marshansky V., Free PMC Article | 01/29/2011 |
| Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO. | Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO.
Merkulova M, Bakulina A, Thaker YR, Grüber G, Marshansky V. | 08/23/2010 |
| Studies indicate that mutations in the ATP6V0A2 gene were found in families with autosomal recessive cutis laxa. | Autosomal recessive cutis laxa syndrome revisited.
Morava E, Guillard M, Lefeber DJ, Wevers RA., Free PMC Article | 01/21/2010 |
| the relationship between ATP6V0A2 mutations, the glycosylation defect and the autosomal recessive cutis laxa type II phenotype is discussed [review] | Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. | 01/21/2010 |
| Loss-of-function mutations in ATP6V0A2 lead to tropoelastin aggregation in the Golgi and increased apoptosis of elastogenic cells. | Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z., Free PMC Article | 01/21/2010 |
| Its role in organellar proton pumping suggests that hTJ6 function may participate in protein trafficking/processing. | Cloning, expression and functional characterization of the putative regeneration and tolerance factor (RTF/TJ6) as a functional vacuolar ATPase proton pump regulatory subunit with a conserved sequence of immunoreceptor tyrosine-based activation motif.
Babichev Y, Tamir A, Park M, Muallem S, Isakov N. | 01/21/2010 |
| Study 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. | Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. | 01/21/2010 |