Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.R378G
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FBXO7

NM_012179.4:p.R378G

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Lucchesi M et al.

International Journal of Molecular Sciences, 2025

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

Parkinsonism with prominent neuropsychiatric symptoms without pyramidal involvement in a patient with FBXO7 variants.

Mahajan S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

Involvement of Mitochondria in Parkinson's Disease.

Choong CJ et al.

International Journal of Molecular Sciences, 2023

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

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

Post-translational modification and mitochondrial function in Parkinson's disease.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

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

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

Fbxo7 and Pink1 play a reciprocal role in regulating their protein levels.

Huang T et al.

Aging, 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

NAD+ in Brain Aging and Neurodegenerative Disorders.

Lautrup S et al.

Cell Metabolism, 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

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

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

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Deficiency of Parkinson's disease-related gene Fbxo7 is associated with impaired mitochondrial metabolism by PARP activation.

Delgado-Camprubi M et al.

Cell Death and Differentiation, 2017

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

Flies with Parkinson's disease.

Vanhauwaert R et al.

Experimental Neurology, 2015

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

Genetics and genomics of Parkinson's disease.

Lin MK et al.

Genome Medicine, 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

A Competitive binding mechanism between Skp1 and exportin 1 (CRM1) controls the localization of a subset of F-box proteins.

Nelson DE et al.

The Journal of Biological Chemistry, 2011

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

Parkinson's disease: from monogenic forms to genetic susceptibility factors.

Lesage S et al.

Human Molecular Genetics, 2009

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.

Shojaee S et al.

American Journal of Human Genetics, 2008

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