Associated Papers
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H et al.
Journal of Inherited Metabolic Disease, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN et al.
Journal of Inherited Metabolic Disease, 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
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
Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.
Tvina A et al.
European Journal of Medical Genetics, 2020
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.
Marques-da-Silva D et al.
Journal of Inherited Metabolic Disease, 2017
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Jansen EJ et al.
Nature Communications, 2016
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