Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.M2397T
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LRRK2

NM_198578.4:p.M2397T

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

The LRRK2 G2385R Exonic Variant: A Potential Genetic Disease Modifier of Multiple System Atrophy?

Kouki N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

Multiple system atrophy: advances in pathogenesis and emerging therapeutic strategies.

Chen Z et al.

Journal of Neurology, 2025

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.

Walkenhorst M et al.

Frontiers in Medicine, 2025

41488087 (PubMed )
Supplement: Table_1.xlsx › Data

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

Kars ME et al.

Genome Medicine, 2024

ASO-mediated knockdown or kinase inhibition of G2019S-Lrrk2 modulates lysosomal tubule-associated antigen presentation in macrophages.

Wallings RL et al.

Molecular Therapy. Nucleic Acids, 2023

Impaired dopamine release in Parkinson's disease.

Cramb KML et al.

Brain : a Journal of Neurology, 2023

Case report of a patient with unclassified tauopathy with molecular and neuropathological features of both progressive supranuclear palsy and corticobasal degeneration.

Koga S et al.

Acta Neuropathologica Communications, 2023

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

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

The genetic basis of multiple system atrophy.

Tseng FS et al.

Journal of Translational Medicine, 2023

The Etiology of Parkinson's Disease: New Perspectives from Gene-Environment Interactions.

Bogers JS et al.

Journal of Parkinson's Disease, 2023

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2022

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 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

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

Reassessing neurodegenerative disease: immune protection pathways and antagonistic pleiotropy.

Provenzano F et al.

Trends in Neurosciences, 2021

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Structural analysis of the full-length human LRRK2.

Myasnikov A et al.

Cell, 2021

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

Bryant N et al.

Human Molecular Genetics, 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

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

Genetic and Environmental Factors in Parkinson's Disease Converge on Immune Function and Inflammation.

Kline EM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

Crohn's and Parkinson's Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14+ Blood Monocytes Ex Vivo.

Ikezu T et al.

Journal of Neuroimmune Pharmacology : the Official Journal of the Society on Neuroimmune Pharmacology, 2020

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Bagyinszky E et al.

Diagnostics (basel, Switzerland), 2020

Is there an antagonistic pleiotropic effect of a LRRK2 mutation on leprosy and Parkinson's disease?

Zhang DF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

32019516 (PubMed )
Supplement: 12881_2020_953_MOESM8_ESM.xlsx › Variants_identified_in_PD_genes

Leucine Rich Repeat Kinase 2 and Innate Immunity.

Ahmadi Rastegar D et al.

Frontiers in Neuroscience, 2020

The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease.

Rideout HJ et al.

Frontiers in Neuroscience, 2020

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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."