Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.Q1111H
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LRRK2

NM_198578.4:p.Q1111H

Associated Papers

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

LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Zhang X et al.

Biomolecules, 2023

Allele-dependent interaction of LRRK2 and NOD2 in leprosy.

Dallmann-Sauer M et al.

Plos Pathogens, 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

Novel Variants in LRRK2 and GBA Identified in Latino Parkinson Disease Cohort Enriched for Caribbean Origin.

Nuytemans K et al.

Frontiers in Neurology, 2020

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

Monfrini E et al.

Advances in Neurobiology, 2017

Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Cornejo-Olivas M et al.

Npj Parkinson's Disease, 2017

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.

Pihlstrøm L et al.

Annals of Human Genetics, 2014

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

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

Mouse models for LRRK2 Parkinson's disease.

Xu Q et al.

Parkinsonism & Related Disorders, 2012

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

Ross OA et al.

The Lancet. Neurology, 2011

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America.

Mata IF et al.

Parkinsonism & Related Disorders, 2011

Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.

Latourelle JC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

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

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.

Lesage S et al.

Journal of Medical Genetics, 2009

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

Lesage S et al.

Human Molecular Genetics, 2009

LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8.

Nichols WC et al.

Neurology, 2007

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