ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Here, Dirk Lefeber and colleagues identify functional mutations in ATP6AP1 encoding Ac45. The authors show that Ac45 is the functional ortholog of yeast V-ATPase assembly factor Voa1 and provide evidence for tissue-specific Ac45 processing, associated with the clinical phenotype of immunodeficiency,...
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Nature Portfolio
2016
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oai:doaj.org-article:afaab16f854a454bb591193eef588aa62021-12-02T17:32:08ZATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation10.1038/ncomms116002041-1723https://doaj.org/article/afaab16f854a454bb591193eef588aa62016-05-01T00:00:00Zhttps://doi.org/10.1038/ncomms11600https://doaj.org/toc/2041-1723Here, Dirk Lefeber and colleagues identify functional mutations in ATP6AP1 encoding Ac45. The authors show that Ac45 is the functional ortholog of yeast V-ATPase assembly factor Voa1 and provide evidence for tissue-specific Ac45 processing, associated with the clinical phenotype of immunodeficiency, hepatopathy, and neurocognitive abnormalities.Eric J. R. JansenSharita TimalMargret RyanAngel AshikovMonique van ScherpenzeelLaurie A. GrahamHanna MandelAlexander HoischenTheodore C. IancuKimiyo RaymondGerry SteenbergenChristian GilissenKarin HuijbenNick H. M. van BakelYusuke MaedaRichard J. RodenburgMaciej AdamowiczEllen CrushellHans KoenenDarius AdamsJulia VodopiutzSusanne Greber-PlatzerThomas MüllerGregor DueckersEva MoravaJolanta Sykut-CegielskaGerard J. M. MartensRon A. WeversTim NiehuesMartijn A. HuynenJoris A. VeltmanTom H. StevensDirk J. LefeberNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-13 (2016) |
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DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Eric J. R. Jansen Sharita Timal Margret Ryan Angel Ashikov Monique van Scherpenzeel Laurie A. Graham Hanna Mandel Alexander Hoischen Theodore C. Iancu Kimiyo Raymond Gerry Steenbergen Christian Gilissen Karin Huijben Nick H. M. van Bakel Yusuke Maeda Richard J. Rodenburg Maciej Adamowicz Ellen Crushell Hans Koenen Darius Adams Julia Vodopiutz Susanne Greber-Platzer Thomas Müller Gregor Dueckers Eva Morava Jolanta Sykut-Cegielska Gerard J. M. Martens Ron A. Wevers Tim Niehues Martijn A. Huynen Joris A. Veltman Tom H. Stevens Dirk J. Lefeber ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation |
| description |
Here, Dirk Lefeber and colleagues identify functional mutations in ATP6AP1 encoding Ac45. The authors show that Ac45 is the functional ortholog of yeast V-ATPase assembly factor Voa1 and provide evidence for tissue-specific Ac45 processing, associated with the clinical phenotype of immunodeficiency, hepatopathy, and neurocognitive abnormalities. |
| format |
article |
| author |
Eric J. R. Jansen Sharita Timal Margret Ryan Angel Ashikov Monique van Scherpenzeel Laurie A. Graham Hanna Mandel Alexander Hoischen Theodore C. Iancu Kimiyo Raymond Gerry Steenbergen Christian Gilissen Karin Huijben Nick H. M. van Bakel Yusuke Maeda Richard J. Rodenburg Maciej Adamowicz Ellen Crushell Hans Koenen Darius Adams Julia Vodopiutz Susanne Greber-Platzer Thomas Müller Gregor Dueckers Eva Morava Jolanta Sykut-Cegielska Gerard J. M. Martens Ron A. Wevers Tim Niehues Martijn A. Huynen Joris A. Veltman Tom H. Stevens Dirk J. Lefeber |
| author_facet |
Eric J. R. Jansen Sharita Timal Margret Ryan Angel Ashikov Monique van Scherpenzeel Laurie A. Graham Hanna Mandel Alexander Hoischen Theodore C. Iancu Kimiyo Raymond Gerry Steenbergen Christian Gilissen Karin Huijben Nick H. M. van Bakel Yusuke Maeda Richard J. Rodenburg Maciej Adamowicz Ellen Crushell Hans Koenen Darius Adams Julia Vodopiutz Susanne Greber-Platzer Thomas Müller Gregor Dueckers Eva Morava Jolanta Sykut-Cegielska Gerard J. M. Martens Ron A. Wevers Tim Niehues Martijn A. Huynen Joris A. Veltman Tom H. Stevens Dirk J. Lefeber |
| author_sort |
Eric J. R. Jansen |
| title |
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation |
| title_short |
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation |
| title_full |
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation |
| title_fullStr |
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation |
| title_full_unstemmed |
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation |
| title_sort |
atp6ap1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation |
| publisher |
Nature Portfolio |
| publishDate |
2016 |
| url |
https://doaj.org/article/afaab16f854a454bb591193eef588aa6 |
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