Gene Review:
ATP6V0A4 - ATPase, H+ transporting, lysosomal V0...
Homo sapiens
Synonyms:
A4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, ...
- Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. Smith, A.N., Borthwick, K.J., Karet, F.E. Gene (2002)
- Genetic Investigation of Autosomal Recessive Distal Renal Tubular Acidosis: Evidence for Early Sensorineural Hearing Loss Associated with Mutations in the ATP6V0A4 Gene. Vargas-Poussou, R., Houillier, P., Le Pottier, N., Strompf, L., Loirat, C., Baudouin, V., Macher, M.A., Déchaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., Cailliez, M., Salomon, R., Nivet, H., Cochat, P., Tack, I., Fargeot, A., Bouissou, F., Kesler, G.R., Lorotte, S., Godefroid, N., Layet, V., Morin, G., Jeunemaître, X., Blanchard, A. J. Am. Soc. Nephrol. (2006)
- Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. Stover, E.H., Borthwick, K.J., Bavalia, C., Eady, N., Fritz, D.M., Rungroj, N., Giersch, A.B., Morton, C.C., Axon, P.R., Akil, I., Al-Sabban, E.A., Baguley, D.M., Bianca, S., Bakkaloglu, A., Bircan, Z., Chauveau, D., Clermont, M.J., Guala, A., Hulton, S.A., Kroes, H., Li Volti, G., Mir, S., Mocan, H., Nayir, A., Ozen, S., Rodriguez Soriano, J., Sanjad, S.A., Tasic, V., Taylor, C.M., Topaloglu, R., Smith, A.N., Karet, F.E. J. Med. Genet. (2002)
- Expression of gene MAGE-A4 in Reed-Sternberg cells. Chambost, H., Van Baren, N., Brasseur, F., Godelaine, D., Xerri, L., Landi, S.J., Theate, I., Plumas, J., Spagnoli, G.C., Michel, G., Coulie, P.G., Olive, D. Blood (2000)
- Alzheimer A4 peptide, gamma-trace, leukoencephalopathy, and hereditary cerebral hemorrhage with amyloidosis-Dutch type. Haan, J., Roos, R.A. Ann. Neurol. (1991)
- A quantitative study of the coincidence of blood vessels and A4 protein deposits in Alzheimer's disease. Luthert, P.J., Williams, J.A. Neurosci. Lett. (1991)
- Large amounts of neocortical beta A4 deposits without neuritic plaques nor tangles in a psychometrically assessed, non-demented person. Delaère, P., Duyckaerts, C., Masters, C., Beyreuther, K., Piette, F., Hauw, J.J. Neurosci. Lett. (1990)
- Renal vacuolar H+-ATPase. Wagner, C.A., Finberg, K.E., Breton, S., Marshansky, V., Brown, D., Geibel, J.P. Physiol. Rev. (2004)
- Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Smith, A.N., Skaug, J., Choate, K.A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S.A., Sanjad, S.A., Al-Sabban, E.A., Lifton, R.P., Scherer, S.W., Karet, F.E. Nat. Genet. (2000)
- Extended haplotypes and linkage disequilibrium between 11 markers at the APOA1-C3-A4 gene cluster on chromosome 11. Benlian, P., Boileau, C., Loux, N., Pastier, D., Masliah, J., Coulon, M., Nigou, M., Ragab, A., Guimard, J., Ruidavets, J.B. Am. J. Hum. Genet. (1991)
- Characterization of a new mouse model for human apolipoprotein A-I/C-III/A-IV deficiency. Mezdour, H., Larigauderie, G., Castro, G., Torpier, G., Fruchart, J., Nowak, M., Fruchart, J.C., Rouis, M., Maeda, N. J. Lipid Res. (2006)
- Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity. Ochotny, N., Van Vliet, A., Chan, N., Yao, Y., Morel, M., Kartner, N., von Schroeder, H.P., Heersche, J.N., Manolson, M.F. J. Biol. Chem. (2006)
- The human low affinity immunoglobulin G Fc receptor III-A and III-B genes. Molecular characterization of the promoter regions. Gessner, J.E., Grussenmeyer, T., Kolanus, W., Schmidt, R.E. J. Biol. Chem. (1995)
- Multiple virulence factors of Cryptococcus neoformans are dependent on VPH1. Erickson, T., Liu, L., Gueyikian, A., Zhu, X., Gibbons, J., Williamson, P.R. Mol. Microbiol. (2001)
- Inhibition of human endothelial cell proliferation by ShIF, a vacuolar H(+)-ATPase-like protein. Tulin, E.E., Onoda, N., Hasegawa, M., Nomura, H., Kitamura, T. Oncogene (2002)
- Vascular endothelial growth factor (VEGF) induces matrix metalloproteinase expression in immortalized chondrocytes. Pufe, T., Harde, V., Petersen, W., Goldring, M.B., Tillmann, B., Mentlein, R. J. Pathol. (2004)
- Neural induction suppresses early expression of the inward-rectifier K+ channel in the ascidian blastomere. Okamura, Y., Takahashi, K. J. Physiol. (Lond.) (1993)
- Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons. Wang, Q.F., Liu, X., O'Connell, J., Peng, Z., Krauss, R.M., Rainwater, D.L., VandeBerg, J.L., Rubin, E.M., Cheng, J.F., Pennacchio, L.A. Hum. Mol. Genet. (2004)
- A novel intragenetic PvuII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4). Mutation and polymorphism report no. 62. Online. Iwata, H., Hirose, S., Akiyoshi, H., Kaneko, S., Mitsudome, A. Hum. Mutat. (1999)
- HOX gene network is involved in the transcriptional regulation of in vivo human adipogenesis. Cantile, M., Procino, A., D'Armiento, M., Cindolo, L., Cillo, C. J. Cell. Physiol. (2003)
- Exendin-4 as a stimulator of rat insulin I gene promoter activity via bZIP/CRE interactions sensitive to serine/threonine protein kinase inhibitor Ro 31-8220. Chepurny, O.G., Hussain, M.A., Holz, G.G. Endocrinology (2002)
- Degradation of the Gluconeogenic Enzyme Fructose-1, 6-Bisphosphatase is Dependent on the Vacuolar ATPase. Liu, J., Brown, C.R., Chiang, H.L. Autophagy. (2005)
- The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans. Su, Y., Zhou, A., Al-Lamki, R.S., Karet, F.E. J. Biol. Chem. (2003)
- Structure of a legume lectin from the bark of Robinia pseudoacacia and its complex with N-acetylgalactosamine. Rabijns, A., Verboven, C., Rougé, P., Barre, A., Van Damme, E.J., Peumans, W.J., De Ranter, C.J. Proteins (2001)
- Exercise-induced STV1 elevation: a sign of right ventricular dysfunction in recent inferior myocardial infarction. Kobayashi, H., Tsuchihashi, K., Hashimoto, A., Nagao, K., Tanaka, S., Shimamoto, K., Iimura, O. The Canadian journal of cardiology. (1994)