Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.K1906R
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LRRK2

NM_198578.4:p.K1906R

Associated Papers

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease.

Kedariti M et al.

Npj Parkinson's Disease, 2022

Elevated In Vitro Kinase Activity in Peripheral Blood Mononuclear Cells of Leucine-Rich Repeat Kinase 2 G2019S Carriers: A Novel Enzyme-Linked Immunosorbent Assay-Based Method.

Melachroinou K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

32652692 (PubMed )
Supplement: MDS-35-2095-s001.docx

Kinase activity of mutant LRRK2 manifests differently in hetero-dimeric vs. homo-dimeric complexes.

Leandrou E et al.

The Biochemical Journal, 2019

LRRK2 Phosphorylation: Behind the Scenes.

De Wit T et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018

Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Melachroinou K et al.

Plos One, 2016

LRRK2 Parkinson disease mutations enhance its microtubule association.

Kett LR et al.

Human Molecular Genetics, 2012

The WD40 domain is required for LRRK2 neurotoxicity.

Jorgensen ND et al.

Plos One, 2009

The Parkinson disease protein leucine-rich repeat kinase 2 transduces death signals via Fas-associated protein with death domain and caspase-8 in a cellular model of neurodegeneration.

Ho CC et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

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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."