Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.I2012T
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LRRK2

NM_198578.4:p.I2012T

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

15-Lipoxygenase-Mediated Lipid Peroxidation Regulates LRRK2 Kinase Activity.

Keeney MT et al.

Biorxiv : the Preprint Server for Biology, 2024

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.

Li Y et al.

Journal of Alzheimer's Disease : Jad, 2024

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Silvaieh S et al.

Human Genomics, 2023

14-3-3 phosphorylation inhibits 14-3-3θ's ability to regulate LRRK2 kinase activity.

Pattanayak R et al.

Biorxiv : the Preprint Server for Biology, 2023

LRRK2 expression in normal and pathologic human gut and in rodent enteric neural cell lines.

de Guilhem de Lataillade A et al.

Journal of Neurochemistry, 2023

LRRK2 recruitment, activity, and function in organelles.

Bonet-Ponce L et al.

The Febs Journal, 2022

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

Homozygous mutation of the LRRK2 ROC domain as a novel genetic model of parkinsonism.

Chen ML et al.

Journal of Biomedical Science, 2022

Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Thakur G et al.

Genes, 2022

Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Vacchiano V et al.

Genes, 2022

LRRK2 and Proteostasis in Parkinson's Disease.

Pérez-Carrión MD et al.

International Journal of Molecular Sciences, 2022

Altered neural cell junctions and ion-channels leading to disrupted neuron communication in Parkinson's disease.

Choudhury SP et al.

Npj Parkinson's Disease, 2022

Heart rate variability and sympathetic skin response for the assessment of autonomic dysfunction in leucine-rich repeat kinase 2 associated Parkinson's disease.

Nasri A et al.

Neurophysiologie Clinique = Clinical Neurophysiology, 2022

In vitro genome editing rescues parkinsonism phenotypes in induced pluripotent stem cells-derived dopaminergic neurons carrying LRRK2 p.G2019S mutation.

Chang KH et al.

Stem Cell Research & Therapy, 2021

Genomic Markers for Essential Tremor.

Jiménez-Jiménez FJ et al.

Pharmaceuticals (basel, Switzerland), 2021

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

Bryant N et al.

Human Molecular Genetics, 2021

Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Herrick MK et al.

Npj Parkinson's Disease, 2021

Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan.

Hsu JL et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

Advances of Mechanisms-Related Metabolomics in Parkinson's Disease.

Zhang Y et al.

Frontiers in Neuroscience, 2021

A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene.

Vinagre-Aragón A et al.

Frontiers in Neurology, 2021

Cognitive Impairment in Genetic Parkinson's Disease.

Planas-Ballvé A et al.

Parkinson's Disease, 2021

Colonic Leucine-Rich Repeat Kinase 2 Expression Is Increased and Associated With Disease Severity in Patients With Parkinson's Disease.

Liao PH et al.

Frontiers in Aging Neuroscience, 2021

Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Zhang W et al.

Annals of Clinical and Translational Neurology, 2020

Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.

Huang CY et al.

Journal of Biomedical Science, 2020

32887585 (PubMed )
Supplement: 12929_2020_682_MOESM2_ESM.xlsx › Table_S2

Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity.

Nguyen APT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism.

Sadhukhan D et al.

The Indian Journal of Medical Research, 2020

The LRRK2-RAB axis in regulation of vesicle trafficking and α-synuclein propagation.

Bae EJ et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

LRRK2 in Parkinson disease: challenges of clinical trials.

Tolosa E et al.

Nature Reviews. Neurology, 2020

LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan.

Kaiyrzhanov R et al.

Parkinson's Disease, 2020

LRRK2 and α-Synuclein: Distinct or Synergistic Players in Parkinson's Disease?

O'Hara DM et al.

Frontiers in Neuroscience, 2020

The role of posttranslational modifications of α-synuclein and LRRK2 in Parkinson's disease: Potential contributions of environmental factors.

Pajarillo E et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

The role of Rab GTPases in the pathobiology of Parkinson' disease.

Bonet-Ponce L et al.

Current Opinion in Cell Biology, 2019

Understanding the role of genetic variability in LRRK2 in Indian population.

Kishore A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

Regulation of LRRK2: insights from structural and biochemical analysis.

Gilsbach BK et al.

Biological Chemistry, 2018

LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson's disease: a review.

Chen ML et al.

Journal of Biomedical Science, 2018

Mutant LRRK2 mediates peripheral and central immune responses leading to neurodegeneration in vivo.

Kozina E et al.

Brain : a Journal of Neurology, 2018

Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

Di Fonzo A et al.

Current Neurology and Neuroscience Reports, 2018

Case-control analysis of LRRK2 protective variants in Essential Tremor.

Ng ASL et al.

Scientific Reports, 2018

Generation of induced pluripotent stem cells from a patient with Parkinson's disease carrying LRRK2 p.I2012T mutation.

Lin CH et al.

Stem Cell Research, 2017

Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review.

Chen YF et al.

Bmc Neurology, 2017

GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2.

Blanca Ramírez M et al.

Human Molecular Genetics, 2017

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

Monfrini E et al.

Advances in Neurobiology, 2017

Clinical Features of LRRK2 Carriers with Parkinson's Disease.

Kestenbaum M et al.

Advances in Neurobiology, 2017

Clinical heterogeneity of LRRK2 p.I2012T mutation.

Fan TS et al.

Parkinsonism & Related Disorders, 2016

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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."