Associated Papers
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Lorenzo-Betancor O et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria.
Al Rawi S et al.
The Febs Journal, 2024
A new mutation in the Parkinson's-related FBXO7 gene impairs mitochondrial and proteasomal function.
Navarro E et al.
The Febs Journal, 2024
Involvement of Mitochondria in Parkinson's Disease.
Choong CJ et al.
International Journal of Molecular Sciences, 2023
E3 ligase adaptor FBXO7 contributes to ubiquitination and proteasomal degradation of SIRT7 and promotes cell death in response to hydrogen peroxide.
Lee SH et al.
The Journal of Biological Chemistry, 2023
USP7 attenuates endoplasmic reticulum stress-induced apoptotic cell death through deubiquitination and stabilization of FBXO7.
Lee SH et al.
Plos One, 2023
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation.
Kim EY et al.
Journal of Movement Disorders, 2022
The parkinsonism-associated protein FBXO7 cooperates with the BAG6 complex in proteasome function and controls the subcellular localization of the complex.
Wang Q et al.
The Biochemical Journal, 2021
PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
Segregation of ATP10B variants in families with autosomal recessive parkinsonism.
Tesson C et al.
Acta Neuropathologica, 2020
Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease.
Lorenzo-Betancor O et al.
Parkinsonism & Related Disorders, 2020
Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.
Jin X et al.
Journal of Clinical Laboratory Analysis, 2020
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Correa-Vela M et al.
Annals of Clinical and Translational Neurology, 2020
Loss of FBXO7 results in a Parkinson's-like dopaminergic degeneration via an RPL23-MDM2-TP53 pathway.
Stott SR et al.
The Journal of Pathology, 2019
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Juvenile-onset parkinsonism with pyramidal signs due to compound heterozygous mutations in the F-Box only protein 7 gene.
Wei L et al.
Parkinsonism & Related Disorders, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Mitochondria: A Common Target for Genetic Mutations and Environmental Toxicants in Parkinson's Disease.
Helley MP et al.
Frontiers in Genetics, 2017
Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease.
Teixeira FR et al.
The Biochemical Journal, 2016
Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.
Hernandez DG et al.
Journal of Neurochemistry, 2016
Linking F-box protein 7 and parkin to neuronal degeneration in Parkinson's disease (PD).
Zhou ZD et al.
Molecular Brain, 2016
FBXO7 mutations in Parkinson's disease and multiple system atrophy.
Conedera S et al.
Neurobiology of Aging, 2016
F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy.
Zhou ZD et al.
Human Molecular Genetics, 2015
Splicing: is there an alternative contribution to Parkinson's disease?
La Cognata V et al.
Neurogenetics, 2015
A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Lohmann E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.
Yalcin-Cakmakli G et al.
Parkinsonism & Related Disorders, 2014
Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain.
Gómez-Garre P et al.
Neurobiology of Aging, 2014
Genetics of Parkinson's disease: the yield.
Spatola M et al.
Parkinsonism & Related Disorders, 2014
FBXO7 Y52C polymorphism as a potential protective factor in Parkinson's disease.
Chen CM et al.
Plos One, 2014
Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins.
Nelson DE et al.
Open Biology, 2013
The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.
Burchell VS et al.
Nature Neuroscience, 2013
Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population.
Lin CH et al.
Neurobiology of Aging, 2013
Characterization of the porcine FBX07 gene: the first step towards generation of a pig model for Parkinsonian pyramidal syndrome.
Larsen K et al.
Molecular Biology Reports, 2012
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).
Zhao T et al.
Plos One, 2011
FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients.
Luo LZ et al.
Neuroscience Letters, 2010
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
Paisán-Ruiz C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
Di Fonzo A et al.
Neurology, 2009