Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.I1122V
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LRRK2

NM_198578.4:p.I1122V

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

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

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

Ostrozovicova M et al.

Research Square, 2024

LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Zhang X et al.

Biomolecules, 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

Exploring the focal role of LRRK2 kinase in Parkinson's disease.

Kumar S et al.

Environmental Science and Pollution Research International, 2022

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

Glucocerebrosidase 1 and leucine-rich repeat kinase 2 in Parkinson disease and interplay between the two genes.

Lee CY et al.

Journal of Neurochemistry, 2021

LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.

Skorvanek M et al.

Parkinsonism & Related Disorders, 2021

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Zou L et al.

Frontiers in Integrative Neuroscience, 2021

Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan.

Li Y et al.

Journal of Human Genetics, 2020

Genetic Risk Factors for Essential Tremor: A Review.

Siokas V et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

32775018 (PubMed )
Supplement: tohm-10-1-67-s2.pdf

Progress in LRRK2-Associated Parkinson's Disease Animal Models.

Seegobin SP et al.

Frontiers in Neuroscience, 2020

Pharmacogenetics of Atremorine-Induced Neuroprotection and Dopamine Response in Parkinson's Disease.

Cacabelos R et al.

Planta Medica, 2019

The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives.

García JC et al.

Brain Sciences, 2018

Essential tremor.

Clark LN et al.

Handbook of Clinical Neurology, 2018

LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila.

Marcogliese PC et al.

Human Molecular Genetics, 2017

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

Monfrini E et al.

Advances in Neurobiology, 2017

Flies with Parkinson's disease.

Vanhauwaert R et al.

Experimental Neurology, 2015

Parkinson's disease and age: The obvious but largely unexplored link.

Abdullah R et al.

Experimental Gerontology, 2015

LRRK2 mutations and neurotoxicant susceptibility.

Lee JW et al.

Experimental Biology and Medicine (maywood, N.j.), 2015

Modeling LRRK2 Pathobiology in Parkinson's Disease: From Yeast to Rodents.

Daniel G et al.

Current Topics in Behavioral Neurosciences, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Vacuolar protein sorting 35 (Vps35) rescues locomotor deficits and shortened lifespan in Drosophila expressing a Parkinson's disease mutant of Leucine-Rich Repeat Kinase 2 (LRRK2).

Linhart R et al.

Molecular Neurodegeneration, 2014

Prediction of the repeat domain structures and impact of parkinsonism-associated variations on structure and function of all functional domains of leucine-rich repeat kinase 2 (LRRK2).

Mills RD et al.

Human Mutation, 2014

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

Dopaminergic expression of the Parkinsonian gene LRRK2-G2019S leads to non-autonomous visual neurodegeneration, accelerated by increased neural demands for energy.

Hindle S et al.

Human Molecular Genetics, 2013

Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: a replication study in a Taiwanese cohort.

Wu-Chou YH et al.

Parkinsonism & Related Disorders, 2013

(G2019S) LRRK2 activates MKK4-JNK pathway and causes degeneration of SN dopaminergic neurons in a transgenic mouse model of PD.

Chen CY et al.

Cell Death and Differentiation, 2012

The genetics and neuropathology of Parkinson's disease.

Houlden H et al.

Acta Neuropathologica, 2012

Current understanding of LRRK2 in Parkinson's disease: biochemical and structural features and inhibitor design.

Ray S et al.

Future Medicinal Chemistry, 2012

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

Kramer T et al.

Acs Chemical Neuroscience, 2012

Expression, purification and preliminary biochemical and structural characterization of the leucine rich repeat namesake domain of leucine rich repeat kinase 2.

Vancraenenbroeck R et al.

Biochimica Et Biophysica Acta, 2012

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

Ross OA et al.

The Lancet. Neurology, 2011

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 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

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

Biochemical and molecular features of LRRK2 and its pathophysiological roles in Parkinson's disease.

Seol W

Bmb Reports, 2010

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

Clark LN et al.

Parkinsonism & Related Disorders, 2010

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

Shojaee S et al.

Neuroscience Letters, 2009

Dependence of leucine-rich repeat kinase 2 (LRRK2) kinase activity on dimerization.

Sen S et al.

The Journal of Biological Chemistry, 2009

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.

Alcalay RN et al.

Archives of Neurology, 2009

Leucine-Rich Repeat Kinase 2 interacts with Parkin, DJ-1 and PINK-1 in a Drosophila melanogaster model of Parkinson's disease.

Venderova K et al.

Human Molecular Genetics, 2009

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

Kumari U et al.

The Febs Journal, 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

LRRK2 and neurodegeneration.

Santpere G et al.

Acta Neuropathologica, 2009

Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes.

Barsottini OG et al.

Arquivos De Neuro-psiquiatria, 2009

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