Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.L1165P
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LRRK2

NM_198578.4:p.L1165P

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

LRRK2 kinase-mediated accumulation of lysosome-associated phospho-Rabs in tauopathies and synucleinopathies.

Buck SA et al.

Acta Neuropathologica, 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

Accumulation of LRRK2-associated phospho-Rab12 degenerative lysosomes in tauopathies.

Buck SA et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Parkinson's Disease Genetics and Pathophysiology.

Vázquez-Vélez GE et al.

Annual Review of Neuroscience, 2021

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

Goveas L et al.

Cells, 2021

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

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

Henderson MX et al.

Acta Neuropathologica Communications, 2019

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

Schneider SA et al.

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

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

Monfrini E et al.

Advances in Neurobiology, 2017

Evaluating LRRK2 genetic variants with unclear pathogenicity.

Refai FS et al.

Biomed Research International, 2015

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 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

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

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

Ross OA et al.

The Lancet. Neurology, 2011

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

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

Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.

Covy JP et al.

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

Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations.

Chen-Plotkin AS et al.

Neurology, 2008

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