Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.N2081D
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LRRK2

NM_198578.4:p.N2081D

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

Multi-cohort, cross-species urinary proteomics reveals signatures of LRRK2 dysfunction in Parkinson's disease.

Vu DT et al.

Molecular Systems Biology, 2026

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

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

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

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

Leucine-Rich Repeat Kinase 2: Pathways to Parkinson's Disease.

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

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

Modi R et al.

Current Gastroenterology Reports, 2025

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

Jensen NM et al.

Acta Neuropathologica, 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

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

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

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

Sex-dependent interactions between prodromal intestinal inflammation and LRRK2 G2019S in mice promote endophenotypes of Parkinson's disease.

Fang P et al.

Communications Biology, 2024

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

Kars ME et al.

Genome Medicine, 2024

LRRK2 G2019S Promotes Colon Cancer Potentially via LRRK2-GSDMD Axis-Mediated Gut Inflammation.

Wang Y et al.

Cells, 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

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.

Stein D et al.

Genome Medicine, 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

LRRK2 G2019S promotes the development of colon cancer via modulating intestinal inflammation.

Wang Y et al.

Biorxiv : the Preprint Server for Biology, 2023

Novel LRR-ROC Motif That Links the N- and C-terminal Domains in LRRK2 Undergoes an Order-Disorder Transition Upon Activation.

Weng JH et al.

Journal of Molecular Biology, 2023

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

Sosero YL et al.

Annals of Clinical and Translational Neurology, 2023

LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Zhang X et al.

Biomolecules, 2023

The genetic basis of multiple system atrophy.

Tseng FS et al.

Journal of Translational Medicine, 2023

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

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.

Sazonovs A et al.

Nature Genetics, 2022

The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization.

Lara Ordóñez AJ et al.

Biology Open, 2022

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

Thakur G et al.

Genes, 2022

LRRK2 as a target for modulating immune system responses.

Russo I et al.

Neurobiology of Disease, 2022

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Segur-Bailach E et al.

Journal of Clinical Medicine, 2022

35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S2.pdf

Nanobodies as allosteric modulators of Parkinson's disease-associated LRRK2.

Singh RK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Kolarikova K et al.

Life (basel, Switzerland), 2022

How autophagy controls the intestinal epithelial barrier.

Foerster EG et al.

Autophagy, 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

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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."