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An isoform of the vacuolar (H(+))-ATPase accessory subunit Ac45.
Jansen EJ, van Bakel NH, Coenen AJ, van Dooren SH, van Lith HA, Martens GJ. Jansen EJ, et al. Cell Mol Life Sci. 2010 Feb;67(4):629-40. doi: 10.1007/s00018-009-0200-6. Epub 2009 Nov 28. Cell Mol Life Sci. 2010. PMID: 19946730 Free PMC article.
Novel vertebrate- and brain-specific driver of neuronal outgrowth.
Jansen EJR, van Bakel NHM, Benedict B, Olde Loohuis NFM, Hafmans TGM, Chim SM, Xu J, Kolk SM, Martens GJM. Jansen EJR, et al. Prog Neurobiol. 2021 Jul;202:102069. doi: 10.1016/j.pneurobio.2021.102069. Epub 2021 Apr 29. Prog Neurobiol. 2021. PMID: 33933532 Free article.
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.
74 results