Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.N1437H
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LRRK2

NM_198578.4:p.N1437H

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

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

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

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

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

Deng X et al.

Plos One, 2026

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

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

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

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

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

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

Hyderi Z et al.

Brain Research, 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

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

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

Clinical and Genetic Characteristics of Parkinson's Disease Patients with Substantia Nigra Hyperechogenicity.

Milanowski Ł et al.

International Journal of Molecular Sciences, 2025

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

Ngana GS et al.

Mechanisms of Ageing and Development, 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

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

Gan LH 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

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

The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.

William MB et al.

Npj Parkinson's Disease, 2024

LRRK2 in Parkinson's disease: upstream regulation and therapeutic targeting.

Xiong Y et al.

Trends in Molecular Medicine, 2024

The Genetic Architecture of Parkinson's Disease in the AfrAbia Population: Current State and Future Perspectives.

Mohamed W et al.

Journal of Integrative Neuroscience, 2024

LRRK2 kinase activity is necessary for development and regeneration in Nematostella vectensis.

Holmes G et al.

Neural Development, 2024

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Cook L et al.

Brain : a Journal of Neurology, 2024

39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf

Leucine-Rich Repeat Kinase-2 Controls the Differentiation and Maturation of Oligodendrocytes in Mice and Zebrafish.

Filippini A et al.

Biomolecules, 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

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

Ostrozovicova M et al.

Research Square, 2024

Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.

Tropea TF et al.

Npj Parkinson's Disease, 2024

38702337 (PubMed )
Supplement: 41531_2024_690_MOESM1_ESM.pdf

Genetics in Parkinson's disease, state-of-the-art and future perspectives.

Trevisan L et al.

British Medical Bulletin, 2024

Role of the leucine-rich repeat protein kinase 2 C-terminal tail in domain cross-talk.

Sharma PK et al.

The Biochemical Journal, 2024

Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.

Dulski J et al.

Neurologia I Neurochirurgia Polska, 2024

Emerging perspectives on precision therapy for Parkinson's disease: multidimensional evidence leading to a new breakthrough in personalized medicine.

Wang Q et al.

Frontiers in Aging Neuroscience, 2024

Rab29-dependent asymmetrical activation of leucine-rich repeat kinase 2.

Zhu H et al.

Science (new York, N.y.), 2023

Inhibition of LRRK2 kinase activity rescues deficits in striatal dopamine physiology in VPS35 p.D620N knock-in mice.

Bu M et al.

Npj Parkinson's Disease, 2023

Recent advances in targeting leucine-rich repeat kinase 2 as a potential strategy for the treatment of Parkinson's disease.

Cao R et al.

Bioorganic Chemistry, 2023

An overview of the worldwide distribution of LRRK2 mutations in Parkinson's disease.

El Otmani H et al.

Neurodegenerative Disease Management, 2023

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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."