Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.I2020T
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LRRK2

NM_198578.4:p.I2020T

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

Familial young-onset Parkinson's disease associated with SNCA gene duplication: a case series of three sisters from Turkey.

Işeri P et al.

Neurocase, 2026

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 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

Discordance of Dopaminergic Dysfunction and Subcortical Atrophy by α-Synuclein Status in Sporadic and Genetic Parkinson's Disease.

Duong MT et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

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

Soluble immune factor profiles in blood and CSF associated with LRRK2 mutations and Parkinson's disease.

Jaffery R et al.

Npj Parkinson's Disease, 2025

Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.

Pitton Rissardo J et al.

Brain Sciences, 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

The G2019S LRRK2 mutation exacerbates α-synuclein and tau neuropathology through divergent pathways in Parkinson's disease models.

Tsafaras G et al.

Acta Neuropathologica, 2025

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

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

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

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

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

The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.

Serebryany-Piavsky V et al.

Human Molecular Genetics, 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

Dopamine and cortical neurons with different Parkinsonian mutations show variation in lysosomal and mitochondrial dysfunction.

Chedid J et al.

Npj Parkinson's Disease, 2025

Neuropathological examination of 12 cases of familial Parkinson's disease with LRRK2 I2020T mutation including tau and TDP-43 pathology.

Uchino A et al.

Journal of Neurology, 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

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

Mercatelli D et al.

Neurobiology of Disease, 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

MuSK is a substrate for CaMK2β but this interaction is dispensable for MuSK activation in vivo.

Prömer JJ et al.

Scientific Reports, 2025

40295530 (PubMed )
Supplement: 41598_2025_95053_MOESM1_ESM.xlsx › non-phospho_peptide

Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.

Rossi M et al.

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

39927608 (PubMed )
Supplement: MDS-40-605-s001.docx

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

Gan LH et al.

Npj Parkinson's Disease, 2025

Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy.

Padhan P et al.

Molecular and Cellular Neurosciences, 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

Roles of LRRK2 and its orthologs in protecting against neurodegeneration and neurodevelopmental defects.

Nguyen APT et al.

Frontiers in Cell and Developmental Biology, 2025

Affective phenotypes in heterozygous LRRK2 R1441G knock-in mice.

Ng MHF et al.

Frontiers in Genetics, 2025

Genetic evidence for a functional association between Parkinson's disease proteins leucine-rich repeat kinase 2 and α-synuclein during axonal transport.

Chakraborty P et al.

Frontiers in Molecular Neuroscience, 2025

Intramolecular feedback regulation of the LRRK2 Roc G domain by a LRRK2 kinase-dependent mechanism.

Gilsbach BK et al.

Elife, 2024

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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."