Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.Y1699C
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LRRK2

NM_198578.4:p.Y1699C

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

Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.

Singh K et al.

Cells, 2026

Structural basis for binding of RILPL1 to TMEM55B reveals a lysosomal platform for adaptor assembly through a conserved peptide motif.

Waschbüsch D et al.

Structure (london, England : 1993), 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

Protective or Pathogenic? Kinase activity and the neurodevelopmental origins of G2019S LRRK2-Associated Parkinson's disease.

Gatto EM et al.

Parkinsonism & Related Disorders, 2026

LRRK2 regulates ArfGAP1 membrane localization, activity and neuronal toxicity via phosphorylation within its lipid-sensing ALPS2 motif.

Shariful Islam M et al.

Biorxiv : the Preprint Server for Biology, 2026

Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.

Malik M et al.

Npj Parkinson's Disease, 2026

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

Deng X et al.

Plos One, 2026

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

A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease.

Zheng X et al.

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

41277530 (PubMed )
Supplement: supplement_1.docx

Dysfunctional Alternative Polyadenylation Modifies the Penetrance of LRRK2 Variants in Parkinson's Disease.

Yang S et al.

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

41239858 (PubMed )
Supplement: supplement_1.docx

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

Chen S et al.

Elife, 2025

LRRK2 and the fragile synapse: a molecular prelude to Parkinson's disease?

Masotti B et al.

The Biochemical Journal, 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

Decreased SNCA expression in whole-blood RNA analysis of Parkinson's disease adjusting for neutrophils.

Xu KY et al.

Npj Parkinson's Disease, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease.

Pratuseviciute N et al.

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

Parkinson's disease LRRK2 mutations dysregulate iron homeostasis and promote oxidative stress and ferroptosis in human neurons and astrocytes.

Mamais A et al.

Biorxiv : the Preprint Server for Biology, 2025

The LRRK2 p.A419V variant associates with risk of Parkinson's disease in the East Asian population and an evaluation on age of onset.

Lim KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Clinical feature and alpha-synuclein level of restless legs syndrome with leucine-rich repeat kinase 2 encoding gene mutation.

Guo X et al.

Parkinsonism & Related Disorders, 2025

Structural basis for binding of RILPL1 to TMEM55B reveals a lysosomal platform for adaptor assembly through a conserved TBM motif.

Waschbüsch D et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Subramaniyan S et al.

Neurogenetics, 2025

14-3-3 binding maintains the Parkinson's associated kinase LRRK2 in an inactive state.

Martinez Fiesco JA et al.

Nature Communications, 2025

Therapeutic Targeting of Autosomal Parkinson's Disease by Modulation of Leucine-Rich Repeat Kinase 2 (LRRK2) Protein.

Hyderi Z et al.

Brain Research, 2025

Association of LRRK2 R1628P variant with Parkinson's disease in Kinh Vietnamese: a cross-sectional study.

Do MD et al.

Neurogenetics, 2025

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

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

LRRK2 interactions with microtubules are independent of LRRK2-mediated Rab phosphorylation.

Malankhanova T et al.

Embo Reports, 2025

Loss-of-function coding variants in the Ras of complex proteins/GTPase domain of leucine rich repeat kinase 2.

Butterfield S et al.

Protein Science : a Publication of the Protein Society, 2025

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

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

Role of LRRK2 in axonal transport and Parkinson's disease.

Twellsieck B et al.

The Biochemical Journal, 2025

Actinomyces viscosus promotes neuroprotection in C. elegans models of Parkinson's disease.

Ngana GS et al.

Mechanisms of Ageing and Development, 2025

Impact of LRRK2 and GBA variants on orthostatic hypotension in patients with Parkinson's disease.

Liu W et al.

Journal of Neurology, 2025

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

Jensen NM et al.

Acta Neuropathologica, 2025

40314782 (PubMed )
Supplement: 401_2025_2871_MOESM1_ESM.pdf

Investigating the prevalence of the G2019S mutation in Parkinson's disease among a Libyan population.

Awayn NH et al.

Journal of Parkinson's Disease, 2025

Enhancement of D1 dopaminergic responses in aged LRRK2 G2019S knock-in mice.

Mercatelli D et al.

Neurobiology of Disease, 2025

Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease.

Raza A et al.

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

The homozygous LRRK2.p.N1437D point mutation mouse is a novel model of parkinsonism.

Gan LH et al.

Npj Parkinson's Disease, 2025

The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

Lange LM et al.

Npj Parkinson's Disease, 2025

Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease.

Krüger C et al.

Npj Parkinson's Disease, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

LRRK2-associated parkinsonism with and without in vivo evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization.

Chahine LM et al.

Brain Communications, 2025

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