FBXO7 Antibody

1. Fbxo7 deficiency is associated with reduced cellular NAD(+) levels, which results in increased mitochondrial NADH redox index and impaired activity of complex I in the electron transport chain. PMID: 27689878
2. Structure and function of Fbxo7 in Parkinson's disease has been summarized. (Review) PMID: 26965690
3. Gsk3beta and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease PMID: 27503909
4. Mutations in the F-box only protein 7 (FBXO7) gene, located on chromosome 22q12-q13, have been identified as having distinct clinical features in patients with hereditary Parkinson's disease (PD). PMID: 26882974
5. The mutations of F-box protein 7 (FBXO7) gene (T22M, R378G and R498X) are associated with autosomal recessive juvenile-onset Parkinson's disease We demonstrated wild-type FBXO7 is a stress response protein with both cytoprotective and neurotoxic roles PMID: 26310625
6. This is first time a FBXO7 mutation has been identified that causes phenotype compatible with typical idiopathic Parkinson's disease and presents with some of its common nonmotor features PMID: 26010069
7. High expression of PARK15 might lead to the occurrence of non-small-cell lung cancer. PMID: 26245297
8. genetic analysis of this Turkish family and the Italian PARK15 family reported previously revealed that the c.1492C > T mutation is present on two different haplotypes in the Italian family PMID: 25085748
9. in addition to the parkinsonian-pyramidal phenotype, in connection with FBXO7 mutations and points to an intrafamilial phenotypic variation PMID: 25169713
10. Cys52 variant of FBXO7 may contribute to reduced Parkinson's disease susceptibility in Chinese PMID: 25029497
11. The involvement of the FBXO7 gene in PD is very rare, at least in this population from southern Spain. PMID: 24112787
12. The crystal structure of the Fbxo7 FP domain is reported at 2.0 A resolution. The Fbxo7 FP domain adopts an alpha/beta-fold similar to that of the PI31 FP domain. PMID: 24419388
13. A mutational analysis of the FBXO7 gene in Taiwanese patients with Parkinson's disease (PD) does not show a potential pathophysiological role in PD. PMID: 23352116
14. This study showed that Fbxo7 participates in mitochondrial maintenance through direct interaction with PINK1 and Parkin and acts in Parkin-mediated mitophagy. PMID: 23933751
15. An important role is suggested for FBXO7 in the pathogenesis of synucleinopathies, including Parkinson's disease and multiple system atrophy. PMID: 23656991
16. Mutations in FBX07 is often associated with rapidly progressive parkinsonism and with additional features including pyramidal signs, cognitive decline and loss of sustained Levodopa responsiveness. PMID: 23196729
17. analysis of the zebrafish model of Fbxo7 mutations with a role in levodopa-responsive parkinsonism with severe loss of nigrostriatal dopaminergic neurons PMID: 23133663
18. [review] PARK15-associated parkinsonism, also referred to as parkinsonian-pyramidal disease (PPD), is caused by mutations in the F-box only protein 7 gene FBXO7. PMID: 23318512
19. FBXO7 is a negative regulator of NF-KB signalling, modulating ubiquitination of several components of the TNF-R1 signalling complex and ultimately lowering NF-KB signalling activity. PMID: 22212761
20. activity of FBXO7 in the nucleus appears therefore crucial for the maintenance of brain neurons and the pathogenesis of PARK15 PMID: 21347293
21. Fbxo7 negatively regulates the proliferation and differentiation of haematopoietic progenitor cells in a p53-dependent manner PMID: 21695055
22. Skp1 binding prevented Fbxo7 from contacting CRM1. PMID: 21378169
23. We identified genetic deficits in FBXO7 that were associated with Levodopa responsive parkinsonism with pyramidal signs. PMID: 20669327
24. FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients. PMID: 20603184
25. Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region PMID: 15145941
26. a model for FP domain-mediated dimerization of SCF(Fbxo7) and PI31 PMID: 18495667
27. Recessive FBXO7 mutations cause progressive neurodegeneration with extrapyramidal and pyramidal system involvement, delineating a novel genetically defined entity that we propose to designate as PARK15. PMID: 19038853

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HGNC: 13586

OMIM: 260300

KEGG: hsa:25793

STRING: 9606.ENSP00000266087

UniGene: Hs.5912