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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.
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Structure and function of Fbxo7 in Parkinson's disease has been summarized. (Review)
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Gsk3beta and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease
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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).
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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
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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
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High expression of PARK15 might lead to the occurrence of non-small-cell lung cancer.
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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
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in addition to the parkinsonian-pyramidal phenotype, in connection with FBXO7 mutations and points to an intrafamilial phenotypic variation
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Cys52 variant of FBXO7 may contribute to reduced Parkinson's disease susceptibility in Chinese
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The involvement of the FBXO7 gene in PD is very rare, at least in this population from southern Spain.
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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.
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A mutational analysis of the FBXO7 gene in Taiwanese patients with Parkinson's disease (PD) does not show a potential pathophysiological role in PD.
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This study showed that Fbxo7 participates in mitochondrial maintenance through direct interaction with PINK1 and Parkin and acts in Parkin-mediated mitophagy.
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An important role is suggested for FBXO7 in the pathogenesis of synucleinopathies, including Parkinson's disease and multiple system atrophy.
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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.
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analysis of the zebrafish model of Fbxo7 mutations with a role in levodopa-responsive parkinsonism with severe loss of nigrostriatal dopaminergic neurons
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[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.
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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.
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The SNPs investigated in the BST1, PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.
