Associated Papers
Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.
Wendrich K et al.
Nature Chemical Biology, 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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.
Gezdirici A et al.
Molecular Syndromology, 2023
The ubiquitin-proteasome system in normal hearing and deafness.
Pouyo R et al.
Hearing Research, 2022
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
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Alhebbi H et al.
Journal of Human Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
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
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature.
Vij M et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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