Associated Papers
FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.
Şahin E et al.
Movement Disorders Clinical Practice, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.
Busquets O et al.
Biorxiv : the Preprint Server for Biology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes.
Somerville EN et al.
Expert Review of Molecular Diagnostics, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 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
A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.
Wang Z et al.
Parkinsonism & Related Disorders, 2021
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Wittke C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
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
Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease.
Lorenzo-Betancor O et al.
Parkinsonism & Related Disorders, 2020
Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7.
Yoo D et al.
Journal of Movement 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
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
Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.
Shen T et al.
Scientific Reports, 2018
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
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
FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.
Gündüz A 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