FBXO7

更新于：2025-05-07

基本信息

别名

F-box only protein 7、F-box protein 7、Fbx

+ [3]

简介

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability (PubMed:15145941, PubMed:34791250). Recognizes and ubiquitinates BIRC2 and the cell cycle regulator DLGAP5 (PubMed:15145941, PubMed:16510124, PubMed:22212761). Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. Mediates the ubiquitination and proteasomal degradation of UXT isoform 2, thereby impairing the NF-kappa-B signaling pathway (PubMed:33010352). Inhibits NF-kappa-B pathway also by promoting the ubiquitination of TRAF2 (PubMed:22212761). Affects the assembly state and activity of the proteasome in the cells including neurons by ubiquitinating the proteasomal subunit PSMA2 via 'Lys-63'-linked polyubiquitin chains (By similarity). Promotes 'Lys-48'-linked polyubiquitination SIRT7, leading to the hydrogen peroxide-induced cell death (PubMed:36646384).

关联

100 项与 FBXO7 相关的临床结果

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100 项与 FBXO7 相关的转化医学

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0 项与 FBXO7 相关的专利（医药）

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152

项与 FBXO7 相关的文献（医药）

2024-10-01·Movement Disorders

Parkinson's Disease Gene Screening in Familial Cases from Central and South America

Article

作者: Mazzetti, Pilar ; Torres, Luis ; Ferraz, Henrique B. ; Mata, Ignacio F. ; Schumacher‐Schuh, Artur F. ; Zabetian, Cyrus P. ; Dieguez, Elena ; Raggio, Victor ; Moreno, Sonia ; Jimenez‐Del‐Rio, Marlene ; Mehta, Seysha ; Rieder, Carlos R.M. ; Tumas, Vitor ; Chana‐Cuevas, Pedro ; Lorenzo‐Betancor, Oswaldo ; Mumuney, Sekinat ; Orozco‐Velez, Jorge L. ; Inca‐Martinez, Miguel A. ; Ramchandra, Janvi ; Lopera, Francisco ; Cornejo‐Olivas, Mario ; Velez‐Pardo, Carlos ; Muñoz‐Ospina, Beatriz ; Yearout, Dora ; Borges, Vanderci ; Cosentino, Carlos ; Medina‐Escobar, Alex ; Micheli, Federico ; Sarapura‐Castro, Elison H.

AbstractBackgroundParkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European‐derived families, and little is known about their role in Latin American populations.ObjectivesOur goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America.MethodsWe selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture‐sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed.ResultsWe identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TARDBP, GBA1 risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in ATP13A2, ATP1A3, DNAJC13, DNAJC6, GBA1, LRKK2, PINK1, VPS13C, and VPS35. Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population.ConclusionsThis is the first screening of known PD genes in a large cohort of patients with familial PD from Latin America. There were substantial differences in the spectrum of variants observed in comparison to previous findings from PD families of European origin. Our data provide further evidence that differences exist between the genetic architecture of PD in Latinos and European‐derived populations. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

2024-10-01·Animal Bioscience

Comprehensive genome-wide analysis of genetic loci and candidate genes associated with litter traits in purebred Berkshire pigs of Korea

Article

作者: Park, Jun

Objective: The objective of this study was to identify genomic regions and candidate genes associated with the total number of piglets born (TNB), number of piglets born alive (NBA), and total number of stillbirths (TNS) in Berkshire pigs.Methods: This study used a total of 11,228 records and 2,843 single-nucleotide polymorphism (SNP) data obtained from Illumina porcine 60 K and 80 K chips. The estimated genomic breeding values (GEBVs) and SNP effects were estimated using weighted single-step genomic BLUP (WssGBLUP).Results: The heritabilities of the TNB, NBA, and TNS were determined using single-step genomic best linear unbiased prediction (ssGBLUP). The heritability estimates were 0.13, 0.12, and 0.015 for TNB, NBA, and TNS, respectively. When comparing the accuracy of breeding value estimates, the results using pedigree-based BLUP (PBLUP) were 0.58, 0.60, and 0.31 for TNB, NBA, and TNS, respectively. In contrast, the accuracy increased to 0.67, 0.66, and 0.42 for TNB, NBA, and TNS, respectively, when using WssGBLUP, specifically in the last three iterations. The results of weighted single-step genome-wide association studies (WssGWAS) showed that the highest variance explained for each trait was predominantly located in the Sus scrofa chromosome 5 (SSC5) region. Specifically, the variance exceeded 4% for TNB, 3% for NBA, and 6% for TNS. Within the SSC5 region (12.26 to 12.76 Mb), which exhibited the highest variance for TNB, 20 SNPs were identified, and five candidate genes were identified: TIMP3, SYN3, FBXO7, BPIFC, and RTCB.Conclusion: The identified SNP markers for TNB, NBA, and TNS were expected to provide valuable information for genetic improvement as an understanding of their expression and genetic architecture in Berkshire pigs. With the accumulation of more phenotype and SNP data in the future, it is anticipated that more effective SNP markers will be identified.

2024-06-01·The FEBS Journal

A new mutation in the Parkinson's‐related FBXO7 gene impairs mitochondrial and proteasomal function

Article

作者: Navarro, Elisa ; Esteras, Noemí

Around 10% of Parkinson's disease (PD) cases are associated with mutations in various genes, including FBXO7, which encodes the substrate‐recognition component for the Skp1‐Cullin‐F‐box (SCF) class of ubiquitin E3 ligases that target proteins for proteasomal degradation. In their recent study, Al Rawi et al. characterized a new mutation in FBXO7, L250P, in a pediatric patient. Their findings reveal that the L250P mutation abolishes Fbxo7 interaction with the proteasome regulator, proteasome inhibitor 31kD (PI31), affecting proteasomal activity and the ubiquitination of some of the ligase's targets. Furthermore, the authors show that this previously undescribed mutation impairs mitochondrial function and mitophagy, emphasizing the importance of mitochondrial and proteasomal dysfunction in PD pathogenesis.

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