PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Crystal structure of the WD40 domain dimer of LRRK2.
|
30635421 |
2019 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.
|
29212815 |
2018 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
A pathway for Parkinson's Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain.
|
30398148 |
2018 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Interrogating Parkinson's disease LRRK2 kinase pathway activity by assessing Rab10 phosphorylation in human neutrophils.
|
29127255 |
2018 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Phosphorylation of amyloid precursor protein by mutant LRRK2 promotes AICD activity and neurotoxicity in Parkinson's disease.
|
28720718 |
2017 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Structural interface between LRRK2 and 14-3-3 protein.
|
28202711 |
2017 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Development of a human induced pluripotent stem cell (iPSC) line from a Parkinson's disease patient carrying the N551K variant in LRRK2 gene.
|
28395804 |
2017 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.
|
29125462 |
2017 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reprogramming of a human induced pluripotent stem cell (iPSC) line from a Parkinson's disease patient with a R1628P variant in the LRRK2 gene.
|
28395802 |
2017 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
|
27111571 |
2016 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.
|
26824392 |
2016 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.
|
26251043 |
2015 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.
|
25201882 |
2014 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.
|
24565865 |
2014 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.
|
23395371 |
2013 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified in pedigrees of autosomal-dominant familial Parkinson's disease (PARK8).
|
23924436 |
2013 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
|
22956510 |
2012 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations.
|
23241745 |
2012 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis.
|
22575234 |
2012 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death.
|
21850687 |
2011 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations.
|
21658387 |
2011 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
|
21538529 |
2011 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2.
|
21494637 |
2011 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PARK8 (LRRK2) are associated with autosomal dominant parkinsonism and Parkinson disease (PD).
|
18809839 |
2008 |
PARKINSON DISEASE 8 (disorder)
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
|
18986508 |
2008 |