Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.M1869T
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LRRK2

NM_198578.4:p.M1869T

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 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

Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.

Ambroziak M et al.

International Journal of Molecular Sciences, 2025

40076866 (PubMed )
Supplement: ijms-26-02244-s001.zip › ijms-3484719-supplementary.xlsx › data_1

Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.

Bonato G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

39034353 (PubMed )
Supplement: 10072_2024_7690_MOESM1_ESM.docx

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

Analysis of rare Parkinson's disease variants in millions of people.

Pitz V et al.

Npj Parkinson's Disease, 2024

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

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.

Turski P et al.

Frontiers in Neuroscience, 2022

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Torrealba-Acosta G et al.

Frontiers in Neurology, 2021

34421783 (PubMed )
Supplement: Data_Sheet_1.ZIP › Supplementary_Tables_Costa_Rica_updated.xlsx › Suppl_Table_3_Common_Variants

The LRRK2-RAB axis in regulation of vesicle trafficking and α-synuclein propagation.

Bae EJ et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

LRRK2 in Parkinson disease: challenges of clinical trials.

Tolosa E et al.

Nature Reviews. Neurology, 2020

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

Bandres-Ciga S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.

Diez-Fairen M et al.

Neurobiology of Aging, 2018

Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: a replication study in a Taiwanese cohort.

Wu-Chou YH et al.

Parkinsonism & Related Disorders, 2013

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

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

Ross OA et al.

The Lancet. Neurology, 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

Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.

Sancho RM et al.

Human Molecular Genetics, 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

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

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_

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

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.

Ross OA et al.

Annals of Neurology, 2008

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

Chen-Plotkin AS et al.

Neurology, 2008

Mutations in LRRK2 as a cause of Parkinson's disease.

Giasson BI et al.

Neuro-signals, 2008

The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson's disease.

Li C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2007

LRRK2 screening in a Canadian Parkinson's disease cohort.

Grimes DA et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2007

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

LRRK2 and Parkinson's disease in Norway.

Toft M et al.

Acta Neurologica Scandinavica. Supplementum, 2007

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

Punia S et al.

Neuroscience Letters, 2006

Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.

Pankratz N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration.

Krause M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor.

Deng H 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

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.

Hedrich K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease.

Tan EK et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.

Di Fonzo A et al.

Neurogenetics, 2006

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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."