Associated Papers
Expanding the phenotype of ATP6AP1 deficiency.
Barua S et al.
Cold Spring Harbor Molecular Case Studies, 2022
Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.
Greczan M et al.
Frontiers in Genetics, 2022
36583024 (PubMed )
Supplement: Table1.pdf
Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly.
Wang L et al.
Molecular Cell, 2020
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 et al.
Journal of Inherited Metabolic Disease, 2020
Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.
Tvina A et al.
European Journal of Medical Genetics, 2020
The 3.5-Å CryoEM Structure of Nanodisc-Reconstituted Yeast Vacuolar ATPase Vo Proton Channel.
Roh SH et al.
Molecular Cell, 2018
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Jansen EJ et al.
Nature Communications, 2016
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