Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.M1646T
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LRRK2

NM_198578.4:p.M1646T

Associated Papers

No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson's disease.

Gagliardi M et al.

Gene, 2026

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

MC1R loss-of-function is associated with accelerated Parkinson's disease motor decline.

Schumacher JG et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.

Drwesh L et al.

Npj Parkinson's Disease, 2025

40954161 (PubMed )
Supplement: 41531_2025_1115_MOESM2_ESM.xlsx › Depolarization_quantification

Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers.

Somerville EN et al.

Molecular Neurobiology, 2025

Abundant non-inclusion α-synuclein pathology in Lewy body-negative LRRK2-mutant cases.

Jensen NM et al.

Acta Neuropathologica, 2025

Synaptic deregulation of cholinergic projection neurons causes olfactory dysfunction across five fly Parkinsonism models.

Pech U et al.

Elife, 2025

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-based diagnostics of Parkinson's disease and other Parkinsonian syndromes.

Somerville EN et al.

Expert Review of Molecular Diagnostics, 2024

Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia.

Sosero YL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Genome-wide association study of glucocerebrosidase activity modifiers.

Somerville EN et al.

Research Square, 2024

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

Ostrozovicova M et al.

Research Square, 2024

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

Kars ME et al.

Genome Medicine, 2024

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants

Genetics in Parkinson's disease, state-of-the-art and future perspectives.

Trevisan L et al.

British Medical Bulletin, 2024

Emerging perspectives on precision therapy for Parkinson's disease: multidimensional evidence leading to a new breakthrough in personalized medicine.

Wang Q et al.

Frontiers in Aging Neuroscience, 2024

LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.

Usenko TS et al.

Gene, 2023

Dopamine pathway and Parkinson's risk variants are associated with levodopa-induced dyskinesia.

Sosero YL et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Sosero YL et al.

Annals of Clinical and Translational Neurology, 2023

Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.

Smaili I et al.

Journal of Molecular Neuroscience : Mn, 2023

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.

Senkevich K et al.

Brain : a Journal of Neurology, 2023

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

The genetic basis of multiple system atrophy.

Tseng FS et al.

Journal of Translational Medicine, 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

Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Thakur G et al.

Genes, 2022

Genome Sequencing in the Parkinson Disease Clinic.

Hill EJ et al.

Neurology. Genetics, 2022

Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Vacchiano V et al.

Genes, 2022

LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease.

Kedariti M et al.

Npj Parkinson's Disease, 2022

Lysosomal dysfunction in neurodegeneration: emerging concepts and methods.

Udayar V et al.

Trends in Neurosciences, 2022

Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Lake J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease.

Smith LJ et al.

Frontiers in Neurology, 2022

Parkinson's Disease Genetics and Pathophysiology.

Vázquez-Vélez GE et al.

Annual Review of Neuroscience, 2021

LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.

Sosero YL et al.

Neurobiology of Aging, 2021

Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.

Bryant N et al.

Human Molecular Genetics, 2021

Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Goveas L et al.

Cells, 2021

Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Herrick MK et al.

Npj Parkinson's Disease, 2021

Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease.

Heckman MG et al.

Parkinsonism & Related Disorders, 2021

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

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes.

Ciani M et al.

International Journal of Molecular Sciences, 2019

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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."