Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.S1228T
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LRRK2

NM_198578.4:p.S1228T

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

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

40301370 (PubMed )
Supplement: 41531_2025_934_MOESM1_ESM.xlsx › Supplementary_Data_3

Cluster Buster: A Machine Learning Algorithm for Genotyping SNPs from Raw Data.

Martin J et al.

Biorxiv : the Preprint Server for Biology, 2024

39253512 (PubMed )
Supplement: media-2.xlsx › gencall_concordance_rates

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

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

Kars ME et al.

Genome Medicine, 2024

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

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

Monfrini E et al.

Advances in Neurobiology, 2017

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

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.

Anfossi M et al.

Journal of Alzheimer's Disease : Jad, 2014

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 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

Small molecule kinase inhibitors for LRRK2 and their application to Parkinson's disease models.

Kramer T et al.

Acs Chemical Neuroscience, 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

Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers.

Brockmann K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

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

Ross OA et al.

The Lancet. Neurology, 2011

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.

Seki N et al.

Journal of Human Genetics, 2011

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 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

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

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

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

Lu YW et al.

Journal of Neuroscience Research, 2008

Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant.

Pchelina SN et al.

European Journal of Neurology, 2008

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Paisán-Ruíz C et al.

Human Mutation, 2008

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases.

Mandemakers W et al.

Journal of Cell Science, 2007

Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients.

Punia S et al.

Neuroscience Letters, 2006

LRRK2 expression in normal and pathologic human brain and in human cell lines.

Miklossy J et al.

Journal of Neuropathology and Experimental Neurology, 2006

LRRK2 in Parkinson's disease: protein domains and functional insights.

Mata IF et al.

Trends in Neurosciences, 2006

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

Berg D et al.

Brain : a Journal of Neurology, 2005

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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."