Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R793M
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LRRK2

NM_198578.4:p.R793M

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

41629305 (PubMed )
Supplement: 41531_2026_1265_MOESM2_ESM.xlsx › Supplementary_Table_9

Soluble immune factor profiles in blood and CSF associated with LRRK2 mutations and Parkinson's disease.

Jaffery R et al.

Npj Parkinson's Disease, 2025

Neuropathological examination of 12 cases of familial Parkinson's disease with LRRK2 I2020T mutation including tau and TDP-43 pathology.

Uchino A et al.

Journal of Neurology, 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

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

Lim SY et al.

Npj Parkinson's Disease, 2025

39988587 (PubMed )
Supplement: 41531_2025_884_MOESM2_ESM.xlsx › Controls

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases.

Herbert A

Genes and Immunity, 2024

The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.

Kars ME et al.

Genome Medicine, 2024

Motor and Non-motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi-Scale Meta-Analysis.

Asimakidou E et al.

Movement Disorders Clinical Practice, 2024

LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Sosero YL et al.

Annals of Clinical and Translational Neurology, 2023

Glucocerebrosidase activity and lipid levels are related to protein pathologies in Parkinson's disease.

Leyns CEG et al.

Npj Parkinson's Disease, 2023

37169750 (PubMed )
Supplement: 41531_2023_517_MOESM1_ESM.pdf

LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Zhang X et al.

Biomolecules, 2023

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Goveas L et al.

Cells, 2021

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.

Rudakou U et al.

Brain : a Journal of Neurology, 2021

Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease.

Heckman MG et al.

Parkinsonism & Related Disorders, 2021

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Torrealba-Acosta G et al.

Frontiers in Neurology, 2021

34421783 (PubMed )
Supplement: Data_Sheet_1.ZIP › Supplementary_Tables_Costa_Rica_updated.xlsx › Suppl_Table_2_Rare_Variants

Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Kuusimäki T et al.

Journal of Neurology, 2020

The LRRK2-RAB axis in regulation of vesicle trafficking and α-synuclein propagation.

Bae EJ et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Mutation Analysis of the Genes Associated with Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia.

Luukkainen L et al.

Journal of Alzheimer's Disease : Jad, 2020

Alzheimer's disease tau is a prominent pathology in LRRK2 Parkinson's disease.

Henderson MX et al.

Acta Neuropathologica Communications, 2019

Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review.

de Oliveira LM et al.

Movement Disorders Clinical Practice, 2019

Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.

Artusi CA et al.

Jama Network Open, 2019

A Comprehensive Analysis of Population Differences in LRRK2 Variant Distribution in Parkinson's Disease.

Shu L et al.

Frontiers in Aging Neuroscience, 2019

Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature.

Ligaard J et al.

Npj Parkinson's Disease, 2019

Tied up: Does altering phosphoinositide-mediated membrane trafficking influence neurodegenerative disease phenotypes?

Nadiminti SSP et al.

Journal of Genetics, 2018

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

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Functional properties of LRRK2 mutations in Taiwanese Parkinson disease.

Chang KH et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2017

Genome-wide assessment of Parkinson's disease in a Southern Spanish population.

Bandrés-Ciga S et al.

Neurobiology of Aging, 2016

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA et al.

Molecular Neurodegeneration, 2016

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

Structural biology of the LRRK2 GTPase and kinase domains: implications for regulation.

Gilsbach BK et al.

Frontiers in Molecular Neuroscience, 2014

TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT.

Ling H et al.

Neurobiology of Aging, 2013

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

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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."