Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.T2031S
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LRRK2

NM_198578.4:p.T2031S

Associated Papers

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

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

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

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

Usenko TS et al.

Gene, 2023

Precision Medicine in Parkinson's Disease: From Genetic Risk Signals to Personalized Therapy.

Straccia G et al.

Brain Sciences, 2022

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson's Disease: A Mini-Review.

Chan GH

Frontiers in Aging Neuroscience, 2022

Deep brain stimulation in Early Onset Parkinson's disease.

Krause P et al.

Frontiers in Neurology, 2022

Oxidative stress factors in Parkinson's disease.

Dorszewska J et al.

Neural Regeneration Research, 2021

Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Kuusimäki T et al.

Journal of Neurology, 2020

LRRK2 Phosphorylation, More Than an Epiphenomenon.

Marchand A et al.

Frontiers in Neuroscience, 2020

Genetic background and outcome of Deep Brain Stimulation in Parkinson's disease.

Rizzone MG et al.

Parkinsonism & Related Disorders, 2019

Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review.

de Oliveira LM et al.

Movement Disorders Clinical Practice, 2019

Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.

Artusi CA et al.

Jama Network Open, 2019

Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature.

Ligaard J et al.

Npj Parkinson's Disease, 2019

Functional and behavioral consequences of Parkinson's disease-associated LRRK2-G2019S mutation.

Benson DL et al.

Biochemical Society Transactions, 2018

Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

Purlyte E et al.

The Embo Journal, 2018

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

Monfrini E et al.

Advances in Neurobiology, 2017

LRRK2 Phosphorylation.

Nichols RJ

Advances in Neurobiology, 2017

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

Lack of correlation between the kinase activity of LRRK2 harboring kinase-modifying mutations and its phosphorylation at Ser910, 935, and Ser955.

Ito G et al.

Plos One, 2014

In silico, in vitro and cellular analysis with a kinome-wide inhibitor panel correlates cellular LRRK2 dephosphorylation to inhibitor activity on LRRK2.

Vancraenenbroeck R et al.

Frontiers in Molecular Neuroscience, 2014

Role of LRRK2 kinase activity in the pathogenesis of Parkinson's disease.

Greggio E

Biochemical Society Transactions, 2012

Small molecule kinase inhibitors for LRRK2 and their application to Parkinson's disease models.

Kramer T et al.

Acs Chemical Neuroscience, 2012

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

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

Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization.

Dzamko N 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

Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.

Shojaee S et al.

Neuroscience Letters, 2009

LRRK2 in Parkinson's disease: genetic and clinical studies from patients.

Kumari U et al.

The Febs Journal, 2009

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

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.

Lesage S et al.

Journal of Medical Genetics, 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

Parkinson's disease: from monogenic forms to genetic susceptibility factors.

Lesage S et al.

Human Molecular Genetics, 2009

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Paisán-Ruíz C et al.

Human Mutation, 2008

Outcome of bilateral deep brain subthalamic stimulation in patients carrying the R1441G mutation in the LRRK2 dardarin gene.

Gómez-Esteban JC et al.

Neurosurgery, 2008

Mutations in LRRK2 as a cause of Parkinson's disease.

Giasson BI et al.

Neuro-signals, 2008

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

Lesage S et al.

Archives of Neurology, 2007

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.

Schüpbach M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."