PubMed (cited) for id: 300197

Year	Number of Results
1993	1
1994	2
1996	1
2002	1
2008	1
2012	1
2016	1
2017	1
2018	2
2020	2
2024	0

1

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.

Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J, Hansikova H. Ondruskova N, et al. J Inherit Metab Dis. 2020 Jul;43(4):694-700. doi: 10.1002/jimd.12237. Epub 2020 Apr 7. J Inherit Metab Dis. 2020. PMID: 32216104 Free PMC article.

2

Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.

Tvina A, Thomsen A, Palatnik A. Tvina A, et al. Eur J Med Genet. 2020 Jun;63(6):103881. doi: 10.1016/j.ejmg.2020.103881. Epub 2020 Feb 11. Eur J Med Genet. 2020. PMID: 32058063

3

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. Dimitrov B, et al. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028

4

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.

Witters P, Breckpot J, Foulquier F, Preston G, Jaeken J, Morava E. Witters P, et al. Eur J Hum Genet. 2018 May;26(5):618-621. doi: 10.1038/s41431-017-0044-8. Epub 2017 Nov 30. Eur J Hum Genet. 2018. PMID: 29192153 Free PMC article. No abstract available.

5

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. Jansen EJ, et al. Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600. Nat Commun. 2016. PMID: 27231034 Free PMC article.

6

V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption.

Yang DQ, Feng S, Chen W, Zhao H, Paulson C, Li YP. Yang DQ, et al. J Bone Miner Res. 2012 Aug;27(8):1695-707. doi: 10.1002/jbmr.1623. J Bone Miner Res. 2012. PMID: 22467241 Free PMC article.

7

Role of furin in granular acidification in the endocrine pancreas: identification of the V-ATPase subunit Ac45 as a candidate substrate.

Louagie E, Taylor NA, Flamez D, Roebroek AJ, Bright NA, Meulemans S, Quintens R, Herrera PL, Schuit F, Van de Ven WJ, Creemers JW. Louagie E, et al. Proc Natl Acad Sci U S A. 2008 Aug 26;105(34):12319-24. doi: 10.1073/pnas.0800340105. Epub 2008 Aug 19. Proc Natl Acad Sci U S A. 2008. PMID: 18713856 Free PMC article.

8

Targeted disruption of the mouse gene encoding the V-ATPase accessory subunit Ac45.

Schoonderwoert VT, Martens GJ. Schoonderwoert VT, et al. Mol Membr Biol. 2002 Jan-Mar;19(1):67-71. doi: 10.1080/09687680110112910. Mol Membr Biol. 2002. PMID: 11989824

9

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.

Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M. Chen EY, et al. Hum Mol Genet. 1996 May;5(5):659-68. doi: 10.1093/hmg/5.5.659. Hum Mol Genet. 1996. PMID: 8733135

10

Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection.

Sedlacek Z, Korn B, Konecki DS, Siebenhaar R, Coy JF, Kioschis P, Poustka A. Sedlacek Z, et al. Hum Mol Genet. 1993 Nov;2(11):1865-9. doi: 10.1093/hmg/2.11.1865. Hum Mol Genet. 1993. PMID: 8281148

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