Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1398L
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LRRK2

NM_198578.4:p.R1398L

Associated Papers

Roc, the G-domain of the Parkinson's disease-associated protein LRRK2.

Park Y et al.

Trends in Biochemical Sciences, 2022

The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization.

Lara Ordóñez AJ et al.

Biology Open, 2022

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

LRRK2 interacts with the vacuolar-type H+-ATPase pump a1 subunit to regulate lysosomal function.

Wallings R et al.

Human Molecular Genetics, 2019

The Parkinson's disease-associated mutation N1437H impairs conformational dynamics in the G domain of LRRK2.

Huang X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

The Enzymatic Core of the Parkinson's Disease-Associated Protein LRRK2 Impairs Mitochondrial Biogenesis in Aging Yeast.

Aufschnaiter A et al.

Frontiers in Molecular Neuroscience, 2018

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

Blanca Ramírez M et al.

Human Molecular Genetics, 2017

LRRK2: from kinase to GTPase to microtubules and back.

Blanca Ramírez M et al.

Biochemical Society Transactions, 2017

Mechanisms of LRRK2-dependent neurodegeneration: role of enzymatic activity and protein aggregation.

Islam MS et al.

Biochemical Society Transactions, 2017

Understanding the GTPase Activity of LRRK2: Regulation, Function, and Neurotoxicity.

Nguyen AP et al.

Advances in Neurobiology, 2017

Protective LRRK2 R1398H Variant Enhances GTPase and Wnt Signaling Activity.

Nixon-Abell J et al.

Frontiers in Molecular Neuroscience, 2016

G2385R and I2020T Mutations Increase LRRK2 GTPase Activity.

Ho DH et al.

Biomed Research International, 2016

The Parkinson's Disease-Associated Protein Kinase LRRK2 Modulates Notch Signaling through the Endosomal Pathway.

Imai Y et al.

Plos Genetics, 2015

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

Daniel G et al.

Current Topics in Behavioral Neurosciences, 2015

Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications.

Rudenko IN et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2014

GTPase activity regulates kinase activity and cellular phenotypes of Parkinson's disease-associated LRRK2.

Biosa A et al.

Human Molecular Genetics, 2013

The GTPase function of LRRK2.

Taymans JM

Biochemical Society Transactions, 2012

GTPase activity and neuronal toxicity of Parkinson's disease-associated LRRK2 is regulated by ArfGAP1.

Stafa K et al.

Plos Genetics, 2012

On the road to leucine-rich repeat kinase 2 signalling: evidence from cellular and in vivo studies.

Daniëls V et al.

Neuro-signals, 2011

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

GTPase activity plays a key role in the pathobiology of LRRK2.

Xiong Y et al.

Plos Genetics, 2010

Contribution of GTPase activity to LRRK2-associated Parkinson disease.

Tsika E et al.

Small Gtpases, 0

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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."