Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.A2016T
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LRRK2

NM_198578.4:p.A2016T

Associated Papers

Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease.

Raza A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Pharmacology of LRRK2 with type I and II kinase inhibitors revealed by cryo-EM.

Zhu H et al.

Cell Discovery, 2024

LRRK2 phosphorylation of Rab GTPases in Parkinson's disease.

Pfeffer SR

Febs Letters, 2023

Discovery of azaspirocyclic 1H-3,4,5-Trisubstitued pyrazoles as novel G2019S-LRRK2 selective kinase inhibitors.

Leśniak RK et al.

European Journal of Medicinal Chemistry, 2022

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

Thakur G et al.

Genes, 2022

Discovery of 1H-Pyrazole Biaryl Sulfonamides as Novel G2019S-LRRK2 Kinase Inhibitors.

Leśniak RK et al.

Acs Medicinal Chemistry Letters, 2022

Molecular Modeling Study on the Interaction Mechanism between the LRRK2 G2019S Mutant and Type I Inhibitors by Integrating Molecular Dynamics Simulation, Binding Free Energy Calculations, and Pharmacophore Modeling.

Tan S et al.

Acs Chemical Neuroscience, 2022

Impact of Type II LRRK2 inhibitors on signaling and mitophagy.

Tasegian A et al.

The Biochemical Journal, 2021

Development of a multiplexed targeted mass spectrometry assay for LRRK2-phosphorylated Rabs and Ser910/Ser935 biomarker sites.

Nirujogi RS et al.

The Biochemical Journal, 2021

Leucine-rich repeat kinase 2 inhibitors: a patent review (2014-present).

Ding X et al.

Expert Opinion on Therapeutic Patents, 2020

LRRK2 Phosphorylation, More Than an Epiphenomenon.

Marchand A et al.

Frontiers in Neuroscience, 2020

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

Seegobin SP et al.

Frontiers in Neuroscience, 2020

Proteomics; applications in familial Parkinson's disease.

Li Y et al.

Journal of Neurochemistry, 2019

LRRK2 and membrane trafficking: nexus of Parkinson's disease.

Hur EM et al.

Bmb Reports, 2019

Leucine-rich repeat kinase 2 (LRRK2) inhibitors differentially modulate glutamate release and Serine935 LRRK2 phosphorylation in striatal and cerebrocortical synaptosomes.

Mercatelli D et al.

Pharmacology Research & Perspectives, 2019

Vitamin B12 modulates Parkinson's disease LRRK2 kinase activity through allosteric regulation and confers neuroprotection.

Schaffner A et al.

Cell Research, 2019

LRRK2 Phosphorylation: Behind the Scenes.

De Wit T et al.

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

In Vitro Modeling of Leucine-Rich Repeat Kinase 2 G2019S-Mediated Parkinson's Disease Pathology.

Vermilyea SC et al.

Stem Cells and Development, 2018

LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophages.

Härtlova A et al.

The Embo Journal, 2018

Kinases in synaptic development and neurological diseases.

Baltussen LL et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2018

P62/SQSTM1 is a novel leucine-rich repeat kinase 2 (LRRK2) substrate that enhances neuronal toxicity.

Kalogeropulou AF et al.

The Biochemical Journal, 2018

Dysregulated phosphorylation of Rab GTPases by LRRK2 induces neurodegeneration.

Jeong GR et al.

Molecular Neurodegeneration, 2018

Design of Leucine-Rich Repeat Kinase 2 (LRRK2) Inhibitors Using a Crystallographic Surrogate Derived from Checkpoint Kinase 1 (CHK1).

Williamson DS et al.

Journal of Medicinal Chemistry, 2017

Selective LRRK2 kinase inhibition reduces phosphorylation of endogenous Rab10 and Rab12 in human peripheral mononuclear blood cells.

Thirstrup K et al.

Scientific Reports, 2017

LRRK2 mouse models: dissecting the behavior, striatal neurochemistry and neurophysiology of PD pathogenesis.

Volta M et al.

Biochemical Society Transactions, 2017

Leucine-rich repeat kinase 2 and Parkinson's disease.

Kang UB et al.

Proteomics, 2017

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?

Truban D et al.

Journal of Parkinson's Disease, 2017

LRRK2 Phosphorylation.

Nichols RJ

Advances in Neurobiology, 2017

Small-Molecule Inhibitors of LRRK2.

Hatcher JM et al.

Advances in Neurobiology, 2017

Pharmacological LRRK2 kinase inhibition induces LRRK2 protein destabilization and proteasomal degradation.

Lobbestael E et al.

Scientific Reports, 2016

'Up with the LRRK': a phosphorylated Rab10 assay for evaluation of LRRK2 activity and inhibitor engagement.

Eyers PA

The Biochemical Journal, 2016

Phos-tag analysis of Rab10 phosphorylation by LRRK2: a powerful assay for assessing kinase function and inhibitors.

Ito G et al.

The Biochemical Journal, 2016

Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.

Steger M et al.

Elife, 2016

LRRK2 and ubiquitination: implications for kinase inhibitor therapy.

Melrose HL

The Biochemical Journal, 2015

LRRK2 dephosphorylation increases its ubiquitination.

Zhao J et al.

The Biochemical Journal, 2015

Discovery of a Pyrrolopyrimidine (JH-II-127), a Highly Potent, Selective, and Brain Penetrant LRRK2 Inhibitor.

Hatcher JM et al.

Acs Medicinal Chemistry Letters, 2015

The role of the LRRK2 gene in Parkinsonism.

Li JQ et al.

Molecular Neurodegeneration, 2014

Abnormal visual gain control in a Parkinson's disease model.

Afsari F et al.

Human Molecular Genetics, 2014

Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease.

Martin I et al.

Cell, 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

LRRK2 kinase activity regulates synaptic vesicle trafficking and neurotransmitter release through modulation of LRRK2 macro-molecular complex.

Cirnaru MD et al.

Frontiers in Molecular Neuroscience, 2014

LRRK2 kinase activity and biology are not uniformly predicted by its autophosphorylation and cellular phosphorylation site status.

Reynolds A et al.

Frontiers in Molecular Neuroscience, 2014

Development of an enzyme-linked immunosorbent assay for detection of cellular and in vivo LRRK2 S935 phosphorylation.

Delbroek L et al.

Journal of Pharmaceutical and Biomedical Analysis, 2013

Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicity.

Yao C et al.

Human Molecular Genetics, 2013

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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."