|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Five PARK15-linked FBXO7 gene mutations and several PD-associated single nucleotide polymorphisms (SNP) have been identified so far.
|
30454685 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this review, we highlight the recent research on FBXO7, which advances our knowledge of the etiopathological pathways and fills unexpected gaps therein, justifying the dedicated study of rare variants of PD.
|
29134665 |
2018 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We highlight recent advances in our understanding of Fbxo7 function in Parkinson's disease, with respect to these mutations and where they occur in the Fbxo7 protein.
|
26965690 |
2017 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of Parkinson's disease-related gene Fbxo7 is associated with impaired mitochondrial metabolism by PARP activation.
|
29027992 |
2017 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The discovery of mutations in the α-synuclein gene, which encodes the main protein misfolded in PD aggregates, together with mutations in genes encoding ubiquitin regulatory molecules, including PTEN-induced kinase 1 (PINK1), Parkin, and FBX07, has provided an opportunity to dissect out the molecular basis of ubiquitin signalling disruption in PD, and this knowledge will be critical for developing novel therapeutic strategies in PD that target the ubiquitin system.
|
28408429 |
2017 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The FBXO7 homologue nutcracker and binding partner PI31 in Drosophila melanogaster models of Parkinson's disease.
|
27936908 |
2017 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings bring new insight into the mechanism of Fbxo7 deficiency, emphasising the importance of mitochondrial dysfunction in PD.
|
27689878 |
2017 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Point mutations within FBXO7 map within specific functional domains, including near its F-box domain and its substrate recruiting domains, suggesting that deficiencies in SCF<sup>Fbxo7/PARK15</sup> ubiquitin ligase activity are mechanistically linked to early-onset PD.
|
27503909 |
2016 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast, no pathogenic mutations in FBXO7 among PD and MSA patients of Japanese or other ethnicities were observed.
|
26882974 |
2016 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
FBXO7 is responsible for rare genetic forms of Parkinson disease, while FBXO32 has been implicated in muscle wasting.
|
27173356 |
2016 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
FBXO7 can also form aggregates in brains of PD and Alzheimer's disease.
|
26310625 |
2015 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety.
|
26010069 |
2015 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We therefore hypothesize that Cys52 variant of FBXO7 may contribute to reduced PD susceptibility in Chinese.
|
25029497 |
2014 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, our aim was to analyze this gene in a population from southern Spain (338 Parkinson's disease [PD] patients and 330 unrelated control subjects) to elucidate the potential involvement of FBXO7 in PD pathogenesis.
|
24112787 |
2014 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Autosomal recessive mutations in the genes Parkin, Pink1, DJ-1, ATP13A2, PLA2G6, and FBXO7 have been linked to PD susceptibility.
|
25197640 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The F-box protein 42 gene (FBXO42), a paralog of the FBXO7 gene, is involved in the ubiquitin-proteasome system that may play a role in the pathogenesis of PD.
|
24063688 |
2013 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The F-box only protein 48 gene (FBXO48) is located in 2p13.3, the disease gene locus of Parkinson disease type 3 (PARK3), and it is one of the paralogs of the F-box only protein 7 gene (FBXO7), which is a causative gene of the Parkinson disease type 15 (PARK15; also known as Parkinsonian-pyramidal disease, PPD).
|
23485738 |
2013 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Parkinson's disease-causing mutations in Fbxo7 interfered with this process, emphasizing the importance of mitochondrial dysfunction in Parkinson's disease pathogenesis.
|
23933751 |
2013 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population.
|
23352116 |
2013 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We also highlight recent advances in our understanding of Fbxo7 function in Parkinson's disease, where it functions in the regulation of mitophagy with PINK1 and Parkin.
|
24107298 |
2013 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
22490479 |
2012 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Understanding how FBXO7 mutations cause disease will shed further light on the molecular mechanisms of neurodegeneration, with potential implications also for more common forms of parkinsonism, such as Parkinson disease and multiple system atrophy.
|
19038853 |
2009 |