Associated Papers
Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.
Wendrich K et al.
Nature Chemical Biology, 2025
39587316 (PubMed )
Supplement: 41589_2024_1777_MOESM1_ESM.pdf
Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review.
Nuzhnaya E et al.
Frontiers in Genetics, 2025
The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing.
Ahn S et al.
Yonsei Medical Journal, 2023
Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions.
Kanwal A et al.
Genes, 2023
A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.
Shatokhina O et al.
Genes, 2021
Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.
Porta G et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Zhang J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Cholestatic Liver Disease due to Novel USP53 Mutations: A Case Series of Three Indian Children.
Samanta A et al.
Journal of Clinical and Experimental Hepatology, 0
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