Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.L34R
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FBXO7

NM_012179.4:p.L34R

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

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

Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria.

Al Rawi S et al.

The Febs Journal, 2024

The characteristics of FBXO7 and its role in human diseases.

Zhong Y et al.

Gene, 2023

Pain in monogenic Parkinson's disease: a comprehensive review.

Alizadeh P et al.

Frontiers in Neurology, 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

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

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

Mitochondria: A Common Target for Genetic Mutations and Environmental Toxicants in Parkinson's Disease.

Helley MP et al.

Frontiers in Genetics, 2017

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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."