Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.L1795F
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LRRK2

NM_198578.4:p.L1795F

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

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

Deng X et al.

Plos One, 2026

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 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

14-3-3 binding maintains the Parkinson's associated kinase LRRK2 in an inactive state.

Martinez Fiesco JA et al.

Nature Communications, 2025

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

Association of LRRK2 R1628P variant with Parkinson's disease in Kinh Vietnamese: a cross-sectional study.

Do MD et al.

Neurogenetics, 2025

Leucine-Rich Repeat Kinase 2: Pathways to Parkinson's Disease.

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

Lange LM et al.

Npj Parkinson's Disease, 2025

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.

Marsili L et al.

Biomedicines, 2024

39767580 (PubMed )
Supplement: biomedicines-12-02673-s001.zip › Supplementary_Table_S1.pdf

14-3-3 binding maintains the Parkinson's associated kinase LRRK2 in an inactive state.

Martinez Fiesco JA et al.

Biorxiv : the Preprint Server for Biology, 2024

The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

Lange LM et al.

Research Square, 2024

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

Ostrozovicova M et al.

Research Square, 2024

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Analysis of rare Parkinson's disease variants in millions of people.

Pitz V et al.

Npj Parkinson's Disease, 2024

LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.

Usenko TS et al.

Gene, 2023

Analysis of rare Parkinson's disease variants in millions of people.

Pitz V et al.

Research Square, 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

Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.

Bryant N et al.

Human Molecular Genetics, 2021

Association of caffeine and related analytes with resistance to Parkinson disease among LRRK2 mutation carriers: A metabolomic study.

Crotty GF et al.

Neurology, 2020

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

Deyaert E et al.

The Biochemical Journal, 2019

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.

Illés A et al.

Frontiers in Genetics, 2019

Investigating Voice as a Biomarker for Leucine-Rich Repeat Kinase 2-Associated Parkinson's Disease.

Arora S et al.

Journal of Parkinson's Disease, 2018

Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.

Monfrini E et al.

Advances in Neurobiology, 2017

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA et al.

Molecular Neurodegeneration, 2016

Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Ghani M et al.

Neurobiology of Aging, 2015

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

Phosphorylation of LRRK2 serines 955 and 973 is disrupted by Parkinson's disease mutations and LRRK2 pharmacological inhibition.

Doggett EA et al.

Journal of Neurochemistry, 2012

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Ross OA et al.

The Lancet. Neurology, 2011

Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.

Latourelle JC et al.

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

14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.

Nichols RJ et al.

The Biochemical Journal, 2010

14-3-3 proteins are promising LRRK2 interactors.

Rudenko IN et al.

The Biochemical Journal, 2010

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C

Human Mutation, 2009

Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biskup S et al.

Biochimica Et Biophysica Acta, 2009

Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.

Gandhi PN et al.

Journal of Neuroscience Research, 2009

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.

Ross OA et al.

Annals of Neurology, 2008

LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8.

Nichols WC et al.

Neurology, 2007

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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."