Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.K18M
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LRRK2

NM_198578.4:p.K18M

Associated Papers

Diosgenin reduces β-sheet content in mutated α-syn aggregation: Insights from conformational dynamics at intracellular and extracellular neuronal salt concentrations.

Nandeshwar et al.

Journal of Molecular Graphics & Modelling, 2026

Multiple system atrophy: advances in pathogenesis and emerging therapeutic strategies.

Chen Z et al.

Journal of Neurology, 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

Challenges and Opportunities of Early Parkinson's Disease Biomarkers: α-Synuclein, Leucine-Rich Repeat Kinase 2 (LRRK2), DJ-1, and microRNAs.

Heineman A et al.

Cureus, 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

Environmental Factors Exacerbate Parkinsonian Phenotypes in an Asian-Specific Knock-In LRRK2 Risk Variant in Mice.

Bichler Z et al.

International Journal of Molecular Sciences, 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

Viral mediated α-synuclein overexpression results in greater transgene levels and α-synuclein overload in mice bearing kinase dead mutation of LRRK2.

Albanese F et al.

Scientific Reports, 2025

LRRK2 G2019S Mutated iPSC-Derived Endothelial Cells Exhibit Increased α-Synuclein, Mitochondrial Impairment, and Altered Inflammatory Responses.

Sonninen TM et al.

International Journal of Molecular Sciences, 2024

Targeting Protein Misfolding and Aggregation as a Therapeutic Perspective in Neurodegenerative Disorders.

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

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

Somerville EN et al.

Expert Review of Molecular Diagnostics, 2024

Protein modification in neurodegenerative diseases.

Ramazi S et al.

Medcomm, 2024

Low-dose radiation decreases Lrrk2 levels in the striatum of large mammalian brains: New venues to treat Parkinson's disease?

Iacono D et al.

Parkinsonism & Related Disorders, 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

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

Modeling Parkinson's disease in LRRK2 rodents.

Domenicale C et al.

Neuronal Signaling, 2023

Autosomal dominant Parkinson's disease caused by the recently identified LRRK2 N1437D mutation in a Chinese family: Clinical features, imaging findings, and functional impact.

Sun YM et al.

Parkinsonism & Related Disorders, 2023

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

Pharmacological PINK1 activation ameliorates Pathology in Parkinson's Disease models.

Chin RM et al.

Biorxiv : the Preprint Server for Biology, 2023

Disturb mitochondrial associated proteostasis: Neurodegeneration and imperfect ageing.

Jagtap YA et al.

Frontiers in Cell and Developmental Biology, 2023

Effects of Mutations and Post-Translational Modifications on α-Synuclein In Vitro Aggregation.

Pancoe SX et al.

Journal of Molecular Biology, 2022

Molecular Pathways Involved in LRRK2-Linked Parkinson's Disease: A Systematic Review.

Ravinther AI et al.

International Journal of Molecular Sciences, 2022

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

Tsafaras G et al.

Neurobiology of Disease, 2022

The genetic background of Parkinson's disease and novel therapeutic targets.

Salamon A et al.

Expert Opinion on Therapeutic Targets, 2022

Homozygous mutation of the LRRK2 ROC domain as a novel genetic model of parkinsonism.

Chen ML et al.

Journal of Biomedical Science, 2022

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

Thakur G et al.

Genes, 2022

Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson's disease patients.

Stern S et al.

Npj Parkinson's Disease, 2022

35948563 (PubMed )
Supplement: 41531_2022_366_MOESM1_ESM.pdf

LRRK2 and Proteostasis in Parkinson's Disease.

Pérez-Carrión MD et al.

International Journal of Molecular Sciences, 2022

Distinct profiles of LRRK2 activation and Rab GTPase phosphorylation in clinical samples from different PD cohorts.

Petropoulou-Vathi L et al.

Npj Parkinson's Disease, 2022

Altered neural cell junctions and ion-channels leading to disrupted neuron communication in Parkinson's disease.

Choudhury SP et al.

Npj Parkinson's Disease, 2022

Mutant LRRK2 in lymphocytes regulates neurodegeneration via IL-6 in an inflammatory model of Parkinson's disease.

Kozina E et al.

Npj Parkinson's Disease, 2022

Age-related LRRK2 G2019S Mutation Impacts Microglial Dopaminergic Fiber Refinement and Synaptic Pruning Involved in Abnormal Behaviors.

Zhang Q et al.

Journal of Molecular Neuroscience : Mn, 2022

LRRK2 mutant knock-in mouse models: therapeutic relevance in Parkinson's disease.

Chang EES et al.

Translational Neurodegeneration, 2022

LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease.

Pang SY et al.

Translational Neurodegeneration, 2022

In vivo susceptibility to energy failure parkinsonism and LRRK2 kinase activity.

Novello S et al.

Neurobiology of Disease, 2022

miRNA and antisense oligonucleotide-based α-synuclein targeting as disease-modifying therapeutics in Parkinson's disease.

Suvarna V et al.

Frontiers in Pharmacology, 2022

LRRK2 along the Golgi and lysosome connection: a jamming situation.

Piccoli G et al.

Biochemical Society Transactions, 2021

The C-Terminal Domain of LRRK2 with the G2019S Substitution Increases Mutant A53T α-Synuclein Toxicity in Dopaminergic Neurons In Vivo.

Cresto N et al.

International Journal of Molecular Sciences, 2021

LRRK2 Ablation Attenuates Αlpha-Synuclein-Induced Neuroinflammation Without Affecting Neurodegeneration or Neuropathology In Vivo.

Van der Perren A et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021

LRRK2 at the Crossroad of Aging and Parkinson's Disease.

Hur EM et al.

Genes, 2021

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

DNA damage and repair in Parkinson's disease: Recent advances and new opportunities.

Gonzalez-Hunt CP et al.

Journal of Neuroscience Research, 2021

Treating Parkinson's Disease with Antibodies: Previous Studies and Future Directions.

Castonguay AM et al.

Journal of Parkinson's Disease, 2021

Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models.

Abe T et al.

Frontiers in Neurology, 2021

Pathological Functions of LRRK2 in Parkinson's Disease.

Jeong GR et al.

Cells, 2020

Single-Cell Transcriptomics of Parkinson's Disease Human In Vitro Models Reveals Dopamine Neuron-Specific Stress Responses.

Fernandes HJR et al.

Cell Reports, 2020

Oxidized nicotinamide adenine dinucleotide-dependent mitochondrial deacetylase sirtuin-3 as a potential therapeutic target of Parkinson's disease.

Zhou ZD et al.

Ageing Research Reviews, 2020

The Parkinson's disease-associated kinase LRRK2 regulates genes required for cell adhesion, polarization, and chemotaxis in activated murine macrophages.

Levy DR et al.

The Journal of Biological Chemistry, 2020

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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."