Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 106

1.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M.

J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10.

2.

Mutations in ATP6AP2 cause autophagic liver disease in humans.

Cannata Serio M, Rujano MA, Simons M.

Autophagy. 2018;14(6):1088-1089. doi: 10.1080/15548627.2018.1434370. Epub 2018 May 10.

3.

The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis.

Kinouchi K, Ichihara A, Sano M, Sun-Wada GH, Wada Y, Ochi H, Fukuda T, Bokuda K, Kurosawa H, Yoshida N, Takeda S, Fukuda K, Itoh H.

PLoS One. 2013 Nov 4;8(11):e78603. doi: 10.1371/journal.pone.0078603. eCollection 2013.

4.

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.

J Biol Chem. 2018 Feb 23;293(8):2787-2800. doi: 10.1074/jbc.M117.818872. Epub 2018 Jan 8.

5.

ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.

Guida MC, Hermle T, Graham LA, Hauser V, Ryan M, Stevens TH, Simons M.

Mol Biol Cell. 2018 Sep 1;29(18):2156-2164. doi: 10.1091/mbc.E18-04-0234. Epub 2018 Jul 11.

6.

A Novel GLP1 Receptor Interacting Protein ATP6ap2 Regulates Insulin Secretion in Pancreatic Beta Cells.

Dai FF, Bhattacharjee A, Liu Y, Batchuluun B, Zhang M, Wang XS, Huang X, Luu L, Zhu D, Gaisano H, Wheeler MB.

J Biol Chem. 2015 Oct 9;290(41):25045-61. doi: 10.1074/jbc.M115.648592. Epub 2015 Aug 13.

7.

Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.

Dubos A, Castells-Nobau A, Meziane H, Oortveld MA, Houbaert X, Iacono G, Martin C, Mittelhaeuser C, Lalanne V, Kramer JM, Bhukel A, Quentin C, Slabbert J, Verstreken P, Sigrist SJ, Messaddeq N, Birling MC, Selloum M, Stunnenberg HG, Humeau Y, Schenck A, Herault Y.

Hum Mol Genet. 2015 Dec 1;24(23):6736-55. doi: 10.1093/hmg/ddv380. Epub 2015 Sep 16.

8.

Disruption of the vacuolar-type H+-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes.

Kissing S, Rudnik S, Damme M, Lüllmann-Rauch R, Ichihara A, Kornak U, Eskelinen EL, Jabs S, Heeren J, De Brabander JK, Haas A, Saftig P.

Autophagy. 2017 Apr 3;13(4):670-685. doi: 10.1080/15548627.2017.1280216. Epub 2017 Jan 27.

9.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.

Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.

10.

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

Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA.

Biochim Biophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009. Epub 2009 Jan 8. Review.

11.
12.

The (pro)renin receptor/ATP6AP2 is essential for vacuolar H+-ATPase assembly in murine cardiomyocytes.

Kinouchi K, Ichihara A, Sano M, Sun-Wada GH, Wada Y, Kurauchi-Mito A, Bokuda K, Narita T, Oshima Y, Sakoda M, Tamai Y, Sato H, Fukuda K, Itoh H.

Circ Res. 2010 Jul 9;107(1):30-4. doi: 10.1161/CIRCRESAHA.110.224667. Epub 2010 Jun 22.

PMID:
20570919
13.

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH.

Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16.

14.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ.

Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.

15.

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C.

Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31.

PMID:
29396028
16.

Colocalization of the (Pro)renin Receptor/Atp6ap2 with H+-ATPases in Mouse Kidney but Prorenin Does Not Acutely Regulate Intercalated Cell H+-ATPase Activity.

Daryadel A, Bourgeois S, Figueiredo MF, Gomes Moreira A, Kampik NB, Oberli L, Mohebbi N, Lu X, Meima ME, Danser AH, Wagner CA.

PLoS One. 2016 Jan 29;11(1):e0147831. doi: 10.1371/journal.pone.0147831. eCollection 2016.

17.

Renal Atp6ap2/(Pro)renin Receptor Is Required for Normal Vacuolar H+-ATPase Function but Not for the Renin-Angiotensin System.

Trepiccione F, Gerber SD, Grahammer F, López-Cayuqueo KI, Baudrie V, Păunescu TG, Capen DE, Picard N, Alexander RT, Huber TB, Chambrey R, Brown D, Houillier P, Eladari D, Simons M.

J Am Soc Nephrol. 2016 Nov;27(11):3320-3330. Epub 2016 Apr 4.

18.

(Pro)renin receptor (ATP6AP2) depletion arrests As4.1 cells in the G0/G1 phase thereby increasing formation of primary cilia.

Wanka H, Lutze P, Staar D, Peters B, Morch A, Vogel L, Chilukoti RK, Homuth G, Sczodrok J, Bäumgen I, Peters J.

J Cell Mol Med. 2017 Jul;21(7):1394-1410. doi: 10.1111/jcmm.13069. Epub 2017 Feb 19.

19.

Vacuolar ATPase in phagosome-lysosome fusion.

Kissing S, Hermsen C, Repnik U, Nesset CK, von Bargen K, Griffiths G, Ichihara A, Lee BS, Schwake M, De Brabander J, Haas A, Saftig P.

J Biol Chem. 2015 May 29;290(22):14166-80. doi: 10.1074/jbc.M114.628891. Epub 2015 Apr 22.

20.

Frequent mutations of genes encoding vacuolar H+ -ATPase components in granular cell tumors.

Sekimizu M, Yoshida A, Mitani S, Asano N, Hirata M, Kubo T, Yamazaki F, Sakamoto H, Kato M, Makise N, Mori T, Yamazaki N, Sekine S, Oda I, Watanabe SI, Hiraga H, Yonemoto T, Kawamoto T, Naka N, Funauchi Y, Nishida Y, Honoki K, Kawano H, Tsuchiya H, Kunisada T, Matsuda K, Inagaki K, Kawai A, Ichikawa H.

Genes Chromosomes Cancer. 2019 Jun;58(6):373-380. doi: 10.1002/gcc.22727. Epub 2019 Jan 21.

PMID:
30597645

Supplemental Content

Support Center