Ask about this productRelated genes to: USP53 antibody
- Gene:
- USP53 NIH gene
- Name:
- ubiquitin specific peptidase 53
- Previous symbol:
- -
- Synonyms:
- KIAA1350
- Chromosome:
- 4q26
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-28
- Date modifiied:
- 2018-11-22
Related products to: USP53 antibody
Related articles to: USP53 antibody
- - Source: PubMed
Publication date: 2026/04/28
Li JianJiang YangHe BaihuiLiu ZhennanShi YehongZhai Xiaomei - Inborn errors of metabolism (IEM) are frequently underdiagnosed in low-resource settings due to limited diagnostic infrastructure. We hypothesized that an integrated clinical-genomic approach could improve diagnosis and management of these conditions. Nineteen Pakistani families with clinically suspected IEM underwent systematic clinical assessment, available biochemical testing, and whole-exome sequencing (WES). Variants were classified according to ACMG/AMP guidelines using evidence from population databases, in silico prediction tools, segregation analysis, and genotype-phenotype correlation. Clinical diagnoses and management strategies were reassessed based on molecular findings. WES provided a molecular diagnosis in 90% (17/19) of families and enabled targeted therapeutic interventions in 70% (13/19). However, clinical outcomes were variable due to advanced disease in some cases and limited follow-up. Seven novel variants were identified in CYP27B1, DYM, MTTP, ALDH3A2, USP53, BRAF, and JAG1, while twelve recurrent mutations were detected in PIGN, GCDH, CLCN7, RNASEH2C, ABCB11, MPV17, IDUA, SMPD1, FBP1, SLC37A4, ACADM, and UGT1A1. Integrating genomic findings with clinical reassessment improved diagnostic precision. An integrated clinical-genomic approach enabled accurate diagnosis of pediatric IEM in resource-limited settings, with particular utility in children with metabolic disorders in a consanguineous population. Identification of both novel and recurrent variants expanded the genotypic and phenotypic spectrum of these disorders and highlighted the clinical utility of genomic diagnostics in optimizing patient care. - Source: PubMed
Publication date: 2026/04/13
Mansoor SumreenaAbid SabeenImran MuhammadMalik Munir IqbalAli QamarHussain ShanawazAli Hafiz AsimMasood YasserChoudhry ShehlaQamar RaheelAzam Maleeha - This study aimed to investigate the role of USP53 and its associated signaling pathway associated with USP53 in Alzheimer's disease (AD). - Source: PubMed
Publication date: 2025/12/31
He DandanZhao HuajianZhu YongKou YufeiLiu TaoHuang HuahaiYang HaimingZhang LihuaDeng JingyueXu FengWang Qingyong - We report a pediatric case of cholestatic liver disease associated with two novel compound heterozygous variants in the gene: a truncating c.1219A>T (p.Lys407*) variant inherited from the father and a maternally inherited gross deletion involving exons 13-19. Despite the disruptive nature of these variants, the patient presented with a benign recurrent intrahepatic cholestasis (BRIC) characterized by episodic pruritus, jaundice and elevated bile acids with preserved liver function between episodes. Liver histology revealed fibrosis with a cholestatic component, consistent with mild progressive familial intrahepatic cholestasis (PFIC) features. Molecular diagnosis was confirmed by whole-exome sequencing (WES), chromosomal microarray, and Sanger sequencing. A systematic review of 39 published cases was conducted, revealing that -related disease exhibits broad clinical variability, ranging from BRIC to PFIC7. Our findings expand the spectrum of variants, underscore the relevance of large deletions and emphasize the inclusion of in genetic panels for idiopathic low-gamma-glutamyl transferase (GGT) cholestasis. - Source: PubMed
Publication date: 2025/11/21
Nuzhnaya EkaterinaCherevatova TatianaLotnik EkaterinaShagiazdanova AleksandraMarkova ZhannaFilimonova EkaterinaParshina OlgaBuianova AnastasiiaBobreshova AnastasiaMarakhonov AndreySemenova Natalia - The genetic architecture underlying bone metabolic disorders (BMetDs) remains poorly characterized. Utilizing genomic structural equation modeling (Genomic-SEM) and multiple post-GWAS approaches, we estimated causal single nucleotide polymorphisms (SNPs) associated with BMetDs-independent metabolic variations, identifying 26 novel risk loci (including 14 genome-wide significant loci). Multi-omics analyses-including tissue-specific, cellular-level, and genomic element annotations-were applied to prioritize susceptibility loci and regulatory elements. Additionally, polygenic risk scores (PRS) derived from summary statistics were used to evaluate chromosomal contributions to BMetDs risk. For the first time, we present a comprehensive genetic landscape of BMetDs through a GWAS targeting an unmeasured latent phenotype. - Source: PubMed
Publication date: 2025/11/17
Zhou YunqiaoHuang JianXu LeqinZhang FanBai ChunxiaoFan FangyangWang YuquanFang BixuanWang TianMu XiaohongLi Jinyu