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A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.

Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, Brown D, Jentsch TJ, Vargas-Poussou R, Eladari D, Hübner CA.

EMBO Mol Med. 2012 Oct;4(10):1057-71. doi: 10.1002/emmm.201201527. Epub 2012 Aug 30.


Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis.

Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA.

J Am Soc Nephrol. 2003 Dec;14(12):3027-38.


Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron.

Schulz N, Dave MH, Stehberger PA, Chau T, Wagner CA.

Cell Physiol Biochem. 2007;20(1-4):109-20.


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 HP, Heersche JN, Manolson MF.

J Biol Chem. 2006 Sep 8;281(36):26102-11. Epub 2006 Jul 13.


The B1-subunit of the H(+) ATPase is required for maximal urinary acidification.

Finberg KE, Wagner CA, Bailey MA, Paunescu TG, Breton S, Brown D, Giebisch G, Geibel JP, Lifton RP.

Proc Natl Acad Sci U S A. 2005 Sep 20;102(38):13616-21. Epub 2005 Sep 8.


Regulation of proximal tubule vacuolar H(+)-ATPase by PKA and AMP-activated protein kinase.

Al-bataineh MM, Gong F, Marciszyn AL, Myerburg MM, Pastor-Soler NM.

Am J Physiol Renal Physiol. 2014 May 1;306(9):F981-95. doi: 10.1152/ajprenal.00362.2013. Epub 2014 Feb 19.


Kidney vacuolar H+ -ATPase: physiology and regulation.

Valles P, Lapointe MS, Wysocki J, Batlle D.

Semin Nephrol. 2006 Sep;26(5):361-74. Review.


Ubiquitous and kidney-specific subunits of vacuolar H+-ATPase are differentially expressed during nephrogenesis.

Jouret F, Auzanneau C, Debaix H, Wada GH, Pretto C, Marbaix E, Karet FE, Courtoy PJ, Devuyst O.

J Am Soc Nephrol. 2005 Nov;16(11):3235-46. Epub 2005 Sep 21.


The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis.

Vidarsson H, Westergren R, Heglind M, Blomqvist SR, Breton S, Enerbäck S.

PLoS One. 2009;4(2):e4471. doi: 10.1371/journal.pone.0004471. Epub 2009 Feb 13.


Familial renal tubular acidosis.

Alper SL.

J Nephrol. 2010 Nov-Dec;23 Suppl 16:S57-76. Review.


Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1.

Su Y, Blake-Palmer KG, Sorrell S, Javid B, Bowers K, Zhou A, Chang SH, Qamar S, Karet FE.

Am J Physiol Renal Physiol. 2008 Oct;295(4):F950-8. doi: 10.1152/ajprenal.90258.2008. Epub 2008 Jul 16.


Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.

Smith AN, Jouret F, Bord S, Borthwick KJ, Al-Lamki RS, Wagner CA, Ireland DC, Cormier-Daire V, Frattini A, Villa A, Kornak U, Devuyst O, Karet FE.

J Am Soc Nephrol. 2005 May;16(5):1245-56. Epub 2005 Mar 30.


Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.

Norgett EE, Golder ZJ, Lorente-Cánovas B, Ingham N, Steel KP, Karet Frankl FE.

Proc Natl Acad Sci U S A. 2012 Aug 21;109(34):13775-80. doi: 10.1073/pnas.1204257109. Epub 2012 Aug 7.


Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene.

Smith AN, Finberg KE, Wagner CA, Lifton RP, Devonald MA, Su Y, Karet FE.

J Biol Chem. 2001 Nov 9;276(45):42382-8. Epub 2001 Aug 8.


The calcineurin inhibitor FK506 (tacrolimus) is associated with transient metabolic acidosis and altered expression of renal acid-base transport proteins.

Mohebbi N, Mihailova M, Wagner CA.

Am J Physiol Renal Physiol. 2009 Aug;297(2):F499-509. doi: 10.1152/ajprenal.90489.2008. Epub 2009 May 13.


Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting.

Vedovelli L, Rothermel JT, Finberg KE, Wagner CA, Azroyan A, Hill E, Breton S, Brown D, Paunescu TG.

Am J Physiol Renal Physiol. 2013 Mar 1;304(5):F522-32. doi: 10.1152/ajprenal.00394.2012. Epub 2012 Dec 26.


a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a.

Oka T, Murata Y, Namba M, Yoshimizu T, Toyomura T, Yamamoto A, Sun-Wada GH, Hamasaki N, Wada Y, Futai M.

J Biol Chem. 2001 Oct 26;276(43):40050-4. Epub 2001 Aug 9.


Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE.

Nat Genet. 2000 Sep;26(1):71-5.


Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.

Lorente-Cánovas B, Ingham N, Norgett EE, Golder ZJ, Karet Frankl FE, Steel KP.

Dis Model Mech. 2013 Mar;6(2):434-42. doi: 10.1242/dmm.010645. Epub 2012 Oct 12.

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