Associated Papers
Big1 is a newly identified autophagy regulator that is critical for a fully functional V-ATPase.
Lei Y et al.
Molecular Biology of the Cell, 2024
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.
Semenova N et al.
International Journal of Molecular Sciences, 2023
Expanding the phenotype of ATP6AP1 deficiency.
Barua S et al.
Cold Spring Harbor Molecular Case Studies, 2022
Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report.
Yang X et al.
World Journal of Clinical Cases, 2021
Liver failure and x-linked immunodeficiency type 47.
Gumm AJ et al.
Pediatric Transplantation, 2020
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
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Jansen EJ et al.
Nature Communications, 2016
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