Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.N1437S
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LRRK2

NM_198578.4:p.N1437S

Associated Papers

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

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

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.

Ostrozovicova M et al.

Movement Disorders Clinical Practice, 2025

Exploring environmental modifiers of LRRK2-associated Parkinson's disease penetrance: An exposomics and metagenomics pilot study on household dust.

Talavera Andújar B et al.

Environment International, 2024

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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

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

Ostrozovicova M et al.

Research Square, 2024

Using Extracellular miRNA Signatures to Identify Patients with LRRK2-Related Parkinson's Disease.

Braunger LJ et al.

Journal of Parkinson's Disease, 2024

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

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

Ito G et al.

Biomolecules, 2023

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.

Turski P et al.

Frontiers in Neuroscience, 2022

Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Goveas L et al.

Cells, 2021

Neurodegenerative CSF markers in genetic and sporadic PD: Classification and prediction in a longitudinal study.

Brockmann K et al.

Parkinsonism & Related Disorders, 2015

No dopamine cell loss or changes in cytoskeleton function in transgenic mice expressing physiological levels of wild type or G2019S mutant LRRK2 and in human fibroblasts.

Garcia-Miralles M et al.

Plos One, 2015

Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7.

Chia R et al.

Nature Communications, 2014

LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4.

Häbig K et al.

Biochimica Et Biophysica Acta, 2013

Genetic Screening of the Mitochondrial Rho GTPases MIRO1 and MIRO2 in Parkinson's Disease.

Anvret A et al.

The Open Neurology Journal, 2012

Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers.

Brockmann K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2.

Haebig K et al.

Plos One, 2010

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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."