Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.T1348N
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LRRK2

NM_198578.4:p.T1348N

Associated Papers

Loss-of-function coding variants in the Ras of complex proteins/GTPase domain of leucine rich repeat kinase 2.

Butterfield S et al.

Protein Science : a Publication of the Protein Society, 2025

A STING-CASM-GABARAP pathway activates LRRK2 at lysosomes.

Bentley-DeSousa A et al.

The Journal of Cell Biology, 2025

CalDAG-GEFI acts as a guanine nucleotide exchange factor for LRRK2 to regulate LRRK2 function and neurodegeneration.

Liu Q et al.

Science Advances, 2024

The R1441C-LRRK2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner.

Wallings R et al.

Biorxiv : the Preprint Server for Biology, 2024

ASO-mediated knockdown or kinase inhibition of G2019S-Lrrk2 modulates lysosomal tubule-associated antigen presentation in macrophages.

Wallings RL et al.

Molecular Therapy. Nucleic Acids, 2023

Recent advances in targeting leucine-rich repeat kinase 2 as a potential strategy for the treatment of Parkinson's disease.

Cao R et al.

Bioorganic Chemistry, 2023

Endogenous Rab38 regulates LRRK2's membrane recruitment and substrate Rab phosphorylation in melanocytes.

Unapanta A et al.

The Journal of Biological Chemistry, 2023

Totally tubular: ASO-mediated knock-down of G2019S -Lrrk2 modulates lysosomal tubule-associated antigen presentation in macrophages.

Wallings RL et al.

Biorxiv : the Preprint Server for Biology, 2023

Capturing the domain crosstalk in full length LRRK2 and LRRK2RCKW.

Störmer E et al.

The Biochemical Journal, 2023

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

Park Y et al.

Trends in Biochemical Sciences, 2022

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

Thakur G et al.

Genes, 2022

Molecular mechanisms defining penetrance of LRRK2-associated Parkinson's disease.

Trinh J et al.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2022

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease.

Smith LJ et al.

Frontiers in Neurology, 2022

Abrogation of LRRK2 dependent Rab10 phosphorylation with TLR4 activation and alterations in evoked cytokine release in immune cells.

Nazish I et al.

Neurochemistry International, 2021

Generation of fourteen isogenic cell lines for Parkinson's disease-associated leucine-rich repeat kinase (LRRK2).

Beylina A et al.

Stem Cell Research, 2021

LRRK2 mediates tubulation and vesicle sorting from lysosomes.

Bonet-Ponce L et al.

Science Advances, 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 Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.

Beilina A et al.

Cell Reports, 2020

Advances in elucidating the function of leucine-rich repeat protein kinase-2 in normal cells and Parkinson's disease.

Taylor M et al.

Current Opinion in Cell Biology, 2020

Glycogen synthase kinase 3 β activity is essential for Polo-like kinase 2- and Leucine-rich repeat kinase 2-mediated regulation of α-synuclein.

Kofoed RH et al.

Neurobiology of Disease, 2020

LRRK2 Phosphorylation, More Than an Epiphenomenon.

Marchand A et al.

Frontiers in Neuroscience, 2020

Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2.

Langston RG et al.

Neurochemical Research, 2019

Physiological and pathological functions of LRRK2: implications from substrate proteins.

Araki M et al.

Neuronal Signaling, 2018

The Roc-COR tandem domain of leucine-rich repeat kinase 2 forms dimers and exhibits conventional Ras-like GTPase properties.

Mills RD et al.

Journal of Neurochemistry, 2018

LRRK2 Phosphorylation: Behind the Scenes.

De Wit T et al.

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

LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network.

Liu Z et al.

Human Molecular Genetics, 2018

Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

Purlyte E et al.

The Embo Journal, 2018

Cryo-EM analysis of homodimeric full-length LRRK2 and LRRK1 protein complexes.

Sejwal K et al.

Scientific Reports, 2017

28819229 (PubMed )
Supplement: 41598_2017_9126_MOESM1_ESM.pdf

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

Islam MS et al.

Biochemical Society Transactions, 2017

Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.

Berwick DC et al.

Molecular Neurodegeneration, 2017

Role and mechanism of action of leucine-rich repeat kinase 1 in bone.

Xing WR et al.

Bone Research, 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

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

Melachroinou K et al.

Plos One, 2016

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

Imai Y et al.

Plos Genetics, 2015

Cellular processes associated with LRRK2 function and dysfunction.

Wallings R et al.

The Febs Journal, 2015

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

Daniel G et al.

Current Topics in Behavioral Neurosciences, 2015

Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7.

Chia R et al.

Nature Communications, 2014

Arsenite stress down-regulates phosphorylation and 14-3-3 binding of leucine-rich repeat kinase 2 (LRRK2), promoting self-association and cellular redistribution.

Mamais A et al.

The Journal of Biological Chemistry, 2014

Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily.

Stafa K et al.

Human Molecular Genetics, 2014

Prediction of the repeat domain structures and impact of parkinsonism-associated variations on structure and function of all functional domains of leucine-rich repeat kinase 2 (LRRK2).

Mills RD et al.

Human Mutation, 2014

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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."