Associated Papers
A new mutation in the Parkinson's-related FBXO7 gene impairs mitochondrial and proteasomal function.
Navarro E et al.
The Febs Journal, 2024
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation.
Kim EY et al.
Journal of Movement Disorders, 2022
35880381 (PubMed )
Supplement: jmd-22006-suppl.pdf
A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.
Wang Z et al.
Parkinsonism & Related Disorders, 2021
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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
FBXO7 mutations in Parkinson's disease and multiple system atrophy.
Conedera S et al.
Neurobiology of Aging, 2016
Splicing: is there an alternative contribution to Parkinson's disease?
La Cognata V et al.
Neurogenetics, 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
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
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
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
Di Fonzo A et al.
Neurology, 2009
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