Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.I1371V
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LRRK2

NM_198578.4:p.I1371V

Associated Papers

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

Generation of induced pluripotent stem cells (NIMHi027-A) from a Parkinson's disease patient harbouring a homozygous missense mutation for PLA2G6 gene (chr22:g.38112558C > T).

Banerjee R et al.

Stem Cell Research, 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

Neuropathology in genetic Parkinson's disease: a focused review of pathological and clinical findings.

Barbosa PM et al.

Journal of Neural Transmission (vienna, Austria : 1996), 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

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

Melatonin-Mediated Nrf2 Activation as a Potential Therapeutic Strategy in Mutation-Driven Neurodegenerative Diseases.

Íñigo-Catalina L et al.

Antioxidants (basel, Switzerland), 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

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

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

Cell-autonomous role of leucine-rich repeat kinase in the protection of dopaminergic neuron survival.

Kang J et al.

Elife, 2024

Impaired Sonic Hedgehog Responsiveness of Induced Pluripotent Stem Cell-Derived Floor Plate Cells Carrying the LRRK2-I1371V Mutation Contributes to the Ontogenic Origin of Lower Dopaminergic Neuron Yield.

Potdar C et al.

Stem Cells and Development, 2024

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

Kars ME et al.

Genome Medicine, 2024

Structural insights into the GTP-driven monomerization and activation of a bacterial LRRK2 homolog using allosteric nanobodies.

Galicia C et al.

Elife, 2024

Cell autonomous role of leucine-rich repeat kinase in protection of dopaminergic neuron survival.

Kang J et al.

Biorxiv : the Preprint Server for Biology, 2024

Astrocytes Differentiated from LRRK2-I1371V Parkinson's-Disease-Induced Pluripotent Stem Cells Exhibit Similar Yield but Cell-Intrinsic Dysfunction in Glutamate Uptake and Metabolism, ATP Generation, and Nrf2-Mediated Glutathione Machinery.

Banerjee R et al.

Cells, 2023

Progression and treatment of a series of patients with advanced LRRK2-associated Parkinson's disease.

Fernández-Pajarín G et al.

Neurologia, 2023

Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.

Mutez E et al.

European Journal of Neurology, 2023

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

Sosero YL et al.

Annals of Clinical and Translational Neurology, 2023

Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Ito G et al.

Biomolecules, 2023

LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Zhang X et al.

Biomolecules, 2023

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Dopaminergic Neurons Differentiated from LRRK2 I1371V-Induced Pluripotent Stem Cells Display a Lower Yield, α-Synuclein Pathology, and Functional Impairment.

Jagtap S et al.

Acs Chemical Neuroscience, 2022

Exploring the focal role of LRRK2 kinase in Parkinson's disease.

Kumar S et al.

Environmental Science and Pollution Research International, 2022

Generation of induced pluripotent stem cells (NIMHi004-A, NIMHi005-A and NIMHi006-A) from healthy individuals of Indian ethnicity with no mutation for Parkinson's disease related genes.

Jagtap S et al.

Stem Cell Research, 2022

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

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

Generation of induced pluripotent stem cells (NIMHi002-A and NIMHi003-A) from two sporadic Parkinson's disease patient of East Indian ethnicity.

Datta I et al.

Stem Cell Research, 2020

Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.

Huang CY et al.

Journal of Biomedical Science, 2020

32887585 (PubMed )
Supplement: 12929_2020_682_MOESM2_ESM.xlsx › Table_S2

Allosteric modulation of the GTPase activity of a bacterial LRRK2 homolog by conformation-specific Nanobodies.

Leemans M et al.

The Biochemical Journal, 2020

Generation of induced pluripotent stem cells (NIMHi001-A) from a Parkinson's disease patient of East Indian ethnicity carrying LRRK2 I1371V variant.

Datta I et al.

Stem Cell Research, 2020

LRRK2 in Parkinson disease: challenges of clinical trials.

Tolosa E et al.

Nature Reviews. Neurology, 2020

Generation of induced pluripotent stem cells (IBMSi011-A) from a patient with Parkinson's disease carrying LRRK2 p.I1371V mutation.

Lin HI et al.

Stem Cell Research, 2019

Structure and nucleotide-induced conformational dynamics of the Chlorobium tepidum Roco protein.

Deyaert E et al.

The Biochemical Journal, 2019

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.

Diez-Fairen M et al.

Neurobiology of Aging, 2018

LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson's disease: a review.

Chen ML et al.

Journal of Biomedical Science, 2018

LRRK2 p.Ile1371Val Mutation in a Case with Neuropathologically Confirmed Multi-System Atrophy.

Lee K et al.

Journal of Parkinson's Disease, 2018

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

A homologue of the Parkinson's disease-associated protein LRRK2 undergoes a monomer-dimer transition during GTP turnover.

Deyaert E et al.

Nature Communications, 2017

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Richer W et al.

Oncotarget, 2017

28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1
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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."