Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.D1994N
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LRRK2

NM_198578.4:p.D1994N

Associated Papers

Constitutive silencing of LRRK2 kinase activity leads to early glucocerebrosidase deregulation and late impairment of autophagy in vivo.

Albanese F et al.

Neurobiology of Disease, 2021

Increased LRRK2 kinase activity alters neuronal autophagy by disrupting the axonal transport of autophagosomes.

Boecker CA et al.

Current Biology : Cb, 2021

GTP-binding inhibitors increase LRRK2-linked ubiquitination and Lewy body-like inclusions.

Thomas JM et al.

Journal of Cellular Physiology, 2020

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

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 Phosphorylation, More Than an Epiphenomenon.

Marchand A et al.

Frontiers in Neuroscience, 2020

LRRK2 and Protein Aggregation in Parkinson's Disease: Insights From Animal Models.

Dues DJ et al.

Frontiers in Neuroscience, 2020

Physiological and pathological roles of LRRK2 in the nuclear envelope integrity.

Shani V et al.

Human Molecular Genetics, 2019

LRRK2 enhances Nod1/2-mediated inflammatory cytokine production by promoting Rip2 phosphorylation.

Yan R et al.

Protein & Cell, 2017

Models of LRRK2-Associated Parkinson's Disease.

Xiong Y et al.

Advances in Neurobiology, 2017

LRRK2 Promotes Tau Accumulation, Aggregation and Release.

Guerreiro PS et al.

Molecular Neurobiology, 2016

Parkinson-Related LRRK2 Mutation R1628P Enables Cdk5 Phosphorylation of LRRK2 and Upregulates Its Kinase Activity.

Shu Y et al.

Plos One, 2016

Adenoviral-mediated expression of G2019S LRRK2 induces striatal pathology in a kinase-dependent manner in a rat model of Parkinson's disease.

Tsika E et al.

Neurobiology of Disease, 2015

Novel LRRK2 GTP-binding inhibitors reduced degeneration in Parkinson's disease cell and mouse models.

Li T et al.

Human Molecular Genetics, 2014

Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.

Cho HJ et al.

The Embo Journal, 2014

A Parkinson's disease gene regulatory network identifies the signaling protein RGS2 as a modulator of LRRK2 activity and neuronal toxicity.

Dusonchet J et al.

Human Molecular Genetics, 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

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

Biosa A et al.

Human Molecular Genetics, 2013

Phosphorylation of LRRK2: from kinase to substrate.

Lobbestael E et al.

Biochemical Society Transactions, 2012

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

Identification and characterization of a leucine-rich repeat kinase 2 (LRRK2) consensus phosphorylation motif.

Pungaliya PP et al.

Plos One, 2010

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

Seol W

Bmb Reports, 2010

Kinase activity of mutant LRRK2 mediates neuronal toxicity.

Smith WW et al.

Nature Neuroscience, 2006

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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."