Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.N551K
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LRRK2

NM_198578.4:p.N551K

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

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Deng X et al.

Plos One, 2026

An integrative neurogenomics workflow for precision medicine in neurodegenerative disorders.

Perezcano C et al.

Frontiers in Dementia, 2026

41717632 (PubMed )
Supplement: Data_Sheet_1.pdf

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

LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.

Lang AE et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Uncovering rare somatic variants in olfactory receptor genes in Pakistani triple-negative breast cancer patients.

Shawana S et al.

Bmc Cancer, 2025

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

Chen S et al.

Elife, 2025

Targeting specific kinase substrates rescues increased colitis severity induced by the Crohn's disease-linked LRRK2-N2081D variant.

Heaton GR et al.

The Journal of Clinical Investigation, 2025

Genetic Basis of Sleep Dysfunction in Parkinson's Disease and Parkinsonism.

Wan YM et al.

Sleep Medicine Clinics, 2025

PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.

Chiang CY et al.

Cell Reports, 2025

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

LRRK2 kinase activity regulates Parkinson's disease-relevant lipids at the lysosome.

Maloney MT et al.

Molecular Neurodegeneration, 2025

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

Chen S et al.

Biorxiv : the Preprint Server for Biology, 2025

Strengths, Weaknesses, Opportunities, and Potential Threat Analysis of Targeting Leucine-Rich Repeat Kinase 2 for Parkinson's Disease Treatment: Status Quo and Quo Vadis.

Dang C et al.

Journal of Medicinal Chemistry, 2025

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?

Modi R et al.

Current Gastroenterology Reports, 2025

PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson's disease.

Chiang CY et al.

Biorxiv : the Preprint Server for Biology, 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

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.

Lim SY et al.

Npj Parkinson's Disease, 2025

39988587 (PubMed )
Supplement: 41531_2025_884_MOESM2_ESM.xlsx › Controls

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

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

Somerville EN et al.

Expert Review of Molecular Diagnostics, 2024

LRRK2 and RAB8A regulate cell death after lysosomal damage in macrophages through cholesterol-related pathways.

Tengberg JF et al.

Neurobiology of Disease, 2024

Targeting Specific Kinase Substrates Rescues Increased Colitis Severity Induced by the Crohn's Disease-Linked LRRK2-N2081D Variant.

Heaton GR et al.

Biorxiv : the Preprint Server for Biology, 2024

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

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

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

Usenko TS et al.

Gene, 2023

Small-molecule LRRK2 inhibitors for PD therapy: Current achievements and future perspectives.

Hu J et al.

European Journal of Medicinal Chemistry, 2023

The Genetic Basis of Probable REM Sleep Behavior Disorder in Parkinson's Disease.

Perez-Lloret S et al.

Brain Sciences, 2023

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

Sosero YL et al.

Annals of Clinical and Translational Neurology, 2023

Allele-dependent interaction of LRRK2 and NOD2 in leprosy.

Dallmann-Sauer M et al.

Plos Pathogens, 2023

The genetic basis of multiple system atrophy.

Tseng FS et al.

Journal of Translational Medicine, 2023

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

The role of LRRK2 in the periphery: link with Parkinson's disease and inflammatory diseases.

Tsafaras G et al.

Neurobiology of Disease, 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

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

Thakur G et al.

Genes, 2022

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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."