Associated Papers
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
Raynor A et al.
Journal of Inherited Metabolic Disease, 2025
Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu).
Fang Y et al.
Frontiers in Genetics, 2023
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
Mutations in ATP6AP2 cause autophagic liver disease in humans.
Cannata Serio M et al.
Autophagy, 2018
Modeling Congenital Disorders of N-Linked Glycoprotein Glycosylation in Drosophila melanogaster.
Frappaolo A et al.
Frontiers in Genetics, 2018
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
Rujano MA et al.
The Journal of Experimental Medicine, 2017
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