Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.K544E
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LRRK2

NM_198578.4:p.K544E

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

Cryo-electron tomography reveals the microtubule-bound form of inactive LRRK2.

Chen S et al.

Elife, 2025

Cryo-electron tomography reveals the microtubule-bound form of inactive LRRK2.

Chen S et al.

Biorxiv : the Preprint Server for Biology, 2025

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

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.

Guadagnolo D et al.

Frontiers in Neurology, 2021

A motif within the armadillo repeat of Parkinson's-linked LRRK2 interacts with FADD to hijack the extrinsic death pathway.

Antoniou N et al.

Scientific Reports, 2018

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

Monfrini E et al.

Advances in Neurobiology, 2017

Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Melachroinou K et al.

Plos One, 2016

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

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

Ross OA et al.

The Lancet. Neurology, 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

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

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

Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants.

Xiromerisiou G et al.

European Journal of Neurology, 2007

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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."