Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1067Q
Back to variants list

LRRK2

NM_198578.4:p.R1067Q

Associated Papers

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.

Lim KS et al.

Npj Parkinson's Disease, 2026

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Deng X et al.

Plos One, 2026

LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson's Cohort: epidemiology and clinical insights.

Goh JW et al.

Npj Parkinson's Disease, 2025

The LRRK2 p.A419V variant associates with risk of Parkinson's disease in the East Asian population and an evaluation on age of onset.

Lim KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

Leucine-Rich Repeat Kinase 2: Pathways to Parkinson's Disease.

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.

Parlar SC et al.

Npj Parkinson's Disease, 2025

40301370 (PubMed )
Supplement: 41531_2025_934_MOESM1_ESM.xlsx › Supplementary_Data_3

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.

Lim SY et al.

Npj Parkinson's Disease, 2025

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M et al.

Biomedicines, 2023

LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.

Usenko TS et al.

Gene, 2023

LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Zhang X et al.

Biomolecules, 2023

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 2022

35861376 (PubMed )
Supplement: supplement_1.pdf

Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-4-pkn-10.3233_jpd-212658.xlsx › SPD

Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

Zheng R et al.

Molecular Genetics & Genomic Medicine, 2020

Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease.

Youn J et al.

Neurobiology of Aging, 2019

Exploring the functional impact of mutational drift in LRRK2 gene and identification of specific inhibitors for the treatment of Parkinson disease.

Nagarajan N et al.

Journal of Cellular Biochemistry, 2018

Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey.

Kessler C et al.

Parkinsonism & Related Disorders, 2018

Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.

Monfrini E et al.

Advances in Neurobiology, 2017

Prediction of the repeat domain structures and impact of parkinsonism-associated variations on structure and function of all functional domains of leucine-rich repeat kinase 2 (LRRK2).

Mills RD et al.

Human Mutation, 2014

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

Analysis of LRRK2 accessory repeat domains: prediction of repeat length, number and sites of Parkinson's disease mutations.

Mills RD et al.

Biochemical Society Transactions, 2012

Small molecule kinase inhibitors for LRRK2 and their application to Parkinson's disease models.

Kramer T et al.

Acs Chemical Neuroscience, 2012

Expression, purification and preliminary biochemical and structural characterization of the leucine rich repeat namesake domain of leucine rich repeat kinase 2.

Vancraenenbroeck R et al.

Biochimica Et Biophysica Acta, 2012

Phosphorylation of LRRK2 serines 955 and 973 is disrupted by Parkinson's disease mutations and LRRK2 pharmacological inhibition.

Doggett EA et al.

Journal of Neurochemistry, 2012

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Ross OA et al.

The Lancet. Neurology, 2011

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.

Nichols RJ et al.

The Biochemical Journal, 2010

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.

Shojaee S et al.

Neuroscience Letters, 2009

LRRK2 in Parkinson's disease: genetic and clinical studies from patients.

Kumari U et al.

The Febs Journal, 2009

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C

Human Mutation, 2009

Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biskup S et al.

Biochimica Et Biophysica Acta, 2009

LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.

Zabetian CP et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.

Gandhi PN et al.

Journal of Neuroscience Research, 2009

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

Lesage S et al.

Human Molecular Genetics, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Molecular biology changes associated with LRRK2 mutations in Parkinson's disease.

Lu YW et al.

Journal of Neuroscience Research, 2008

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Paisán-Ruíz C et al.

Human Mutation, 2008

Mutations in LRRK2 as a cause of Parkinson's disease.

Giasson BI et al.

Neuro-signals, 2008

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases.

Mandemakers W et al.

Journal of Cell Science, 2007

LRRK2 and Parkinson's disease in Norway.

Toft M et al.

Acta Neurologica Scandinavica. Supplementum, 2007

Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients.

Punia S et al.

Neuroscience Letters, 2006

1–50 of 57 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."