Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.P755L
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LRRK2

NM_198578.4:p.P755L

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

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

Deng X et al.

Plos One, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Guo J et al.

Human Genomics, 2025

40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1

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

Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.

Li XY et al.

European Journal of Neurology, 2024

The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.

William MB et al.

Npj Parkinson's Disease, 2024

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

Ostrozovicova M et al.

Research Square, 2024

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

Reassessing neurodegenerative disease: immune protection pathways and antagonistic pleiotropy.

Provenzano F et al.

Trends in Neurosciences, 2021

Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease.

Rizig M et al.

Neurobiology of Aging, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.

Skorvanek M et al.

Parkinsonism & Related Disorders, 2021

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease.

Jiang Y et al.

Brain and Behavior, 2020

Is there an antagonistic pleiotropic effect of a LRRK2 mutation on leprosy and Parkinson's disease?

Zhang DF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

LRRK2 in Parkinson disease: challenges of clinical trials.

Tolosa E et al.

Nature Reviews. Neurology, 2020

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Fava VM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

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

Shu L et al.

Frontiers in Aging Neuroscience, 2019

Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Bagyinszky E et al.

Neuropsychiatric Disease and Treatment, 2019

Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.

Lin PC et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients.

Chen H et al.

Genetic Testing and Molecular Biomarkers, 2018

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

Monfrini E et al.

Advances in Neurobiology, 2017

The association between the LRRK2 R1628P variant and the risk of Parkinson's disease in Asian: a meta-analysis.

Wang X et al.

Neuroscience Letters, 2016

Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.

Lee SM et al.

Plos One, 2016

Defining neurodegeneration on Guam by targeted genomic sequencing.

Steele JC et al.

Annals of Neurology, 2015

The association between the LRRK2 G2385R variant and the risk of Parkinson's disease: a meta-analysis based on 23 case-control studies.

Xie CL et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014

Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.

Foo JN et al.

Human Molecular Genetics, 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

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

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio JP et al.

Human Mutation, 2012

Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis.

Wu X et al.

Parkinsonism & Related Disorders, 2012

LRRK2 Pro755Leu variant in ethnic Chinese population with Parkinson's disease.

Yao LY et al.

Neuroscience Letters, 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

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

Clark LN et al.

Parkinsonism & Related Disorders, 2010

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

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

GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients.

Guo Y et al.

Neuroscience Letters, 2009

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

Lu YW et al.

Journal of Neuroscience Research, 2008

Pathogenicity of LRRK2 P755L variant in Parkinson's disease.

Tan EK et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

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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."