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
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
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
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