Varaico: Literature-Extracted Genetic Variants

Gene:RAB32
Variant:p.S71R
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RAB32

NM_006834.5:p.S71R

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

Convergent molecular pathways to inherited Parkinson's disease.

Pfeffer SR

Current Opinion in Cell Biology, 2026

Protective or Pathogenic? Kinase activity and the neurodevelopmental origins of G2019S LRRK2-Associated Parkinson's disease.

Gatto EM et al.

Parkinsonism & Related Disorders, 2026

The Assessment of RAB32 p.Ser71Arg Variant Prevalence in Parkinson's Disease Across Selected African, European, and South American Cohorts.

Olszewska DA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2026

The Global Parkinson's Disease Genetics (GP2) Genome Browser.

Fang ZH et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.

Lang AE et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.

Kafantari E et al.

Genes, 2025

RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.

Kleinz T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

VPS35 mutation inhibits PINK1/parkin-mediated mitophagy via increased LRRK2 kinase activity.

Manders L et al.

Brain : a Journal of Neurology, 2025

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7.

Butkovič R et al.

Nature Communications, 2025

Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer's and other neurological disorders.

Jonson C et al.

Biorxiv : the Preprint Server for Biology, 2025

Bilateral subthalamic deep brain stimulation in Parkinson's disease with RAB32 mutation.

Samanci B et al.

Parkinsonism & Related Disorders, 2025

The promises and pitfalls of automated variant interpretation: a comprehensive review.

Costa M et al.

Briefings in Bioinformatics, 2025

41071614 (PubMed )
Supplement: literature_analysis_bbaf545.xlsx › LITERATURE

Therapeutic Targeting of Autosomal Parkinson's Disease by Modulation of Leucine-Rich Repeat Kinase 2 (LRRK2) Protein.

Hyderi Z et al.

Brain Research, 2025

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.

Ostrozovicova M et al.

Movement Disorders Clinical Practice, 2025

40119633 (PubMed )
Supplement: MDC3-12-1132-s001.docx

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Genetics of Parkinson's Disease: From Causes to Treatment.

Westenberger A et al.

Cold Spring Harbor Perspectives in Medicine, 2025

Role of LRRK2 in axonal transport and Parkinson's disease.

Twellsieck B et al.

The Biochemical Journal, 2025

RAB32 -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria.

Kleinz T et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from Southern Italy.

Gagliardi M et al.

Npj Parkinson's Disease, 2025

RAB32 Ser71Arg in Chinese patients with Parkinson's disease.

Xue Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort.

Magistrelli L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7.

Butkovič R et al.

Biorxiv : the Preprint Server for Biology, 2025

RAB32 Variants in a Chinese Parkinson's Disease Cohort.

Wang S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

Radefeldt M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Characterization of Dnajc12 knockout mice, a model of hypodopaminergia.

Deng IB et al.

Biorxiv : the Preprint Server for Biology, 2024

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Towns C et al.

Npj Parkinson's Disease, 2024

RAB32 mutation in Parkinson's disease.

Beetz C et al.

The Lancet. Neurology, 2024

RAB32 mutation in Parkinson's disease.

Monfrini E et al.

The Lancet. Neurology, 2024

RAB32 mutation in Parkinson's disease.

Zhao Y et al.

The Lancet. Neurology, 2024

RAB32 mutation in Parkinson's disease.

Gómez-Garre P et al.

The Lancet. Neurology, 2024

RAB32 mutation in Parkinson's disease - Author's reply.

Farrer MJ

The Lancet. Neurology, 2024

RAB32 variant is associated with PD susceptibility.

Wood H

Nature Reviews. Neurology, 2024

The Evolution of Genetic Variability at the LRRK2 Locus.

Guenther DT et al.

Genes, 2024

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.

Hop PJ et al.

Nature Genetics, 2024

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Gustavsson EK et al.

The Lancet. Neurology, 2024

New gene involved in the pathogenesis of Parkinson's disease.

Toft M

The Lancet. Neurology, 2024

A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.

Gustavsson EK et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."