Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice.
|
31813996 |
2020 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in LRRK2 are currently recognized as the most common monogenetic cause of Parkinsonism.
|
31664682 |
2019 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Several kinases have been implicated in the pathogenesis of Parkinson's disease (PD), most notably leucine-rich repeat kinase 2 (LRRK2), as LRRK2 mutations are the most common genetic cause of a late-onset parkinsonism that is clinically indistinguishable from sporadic PD.
|
31129265 |
2019 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
We performed Sanger sequencing of all coding LRRK2 and SNCA exons in a sample of 91 patients with Parkinsonism.
|
29248340 |
2018 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
These results indicate that the hep pathway plays an important role in Lrrk2-linked Parkinsonism in flies.
|
29268033 |
2018 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies.
|
28336296 |
2017 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3).
|
29124790 |
2017 |
Parkinsonian Disorders
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The present findings support the notion that reduced/suppressed LRRK2 expression might delay or prevent motor symptoms and/or frank Parkinsonism in individuals at risk to suffer autosomal dominant Parkinsonism (AD-P) by blocking OS-induced neurodegenerative processes in the DAergic neurons.
|
28041945 |
2017 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of genetic Parkinsonism.
|
26536050 |
2016 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genetic variability in DNM3 modifies age of onset for LRRK2 Gly2019Ser parkinsonism and informs disease-relevant translational neuroscience.
|
27692902 |
2016 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Only PD and parkinsonism cases were tested for SNCA and LRRK2 mutations.
|
27613114 |
2016 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families.
|
27777137 |
2016 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Here, we used a two-step approach to identify compounds from the FDA-approved licensed drug library that could suppress neurite degeneration in LRRK2-G2019S parkinsonism.
|
26931464 |
2016 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human LRRK2 G2019S carriers.
|
26251043 |
2015 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
EDS and RBD were always reported to start after the onset of parkinsonism in LRRK2-PD.
|
26177462 |
2015 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
It is also clear that LRRK2 interacts, either physically or genetically, with several other important proteins implicated in PD, suggesting that LRRK2 may be a central player in the pathways that underlie parkinsonism.
|
26008812 |
2015 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
CTD_human |
Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells.
|
26558463 |
2015 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets.
|
24355527 |
2014 |
Parkinsonian Disorders
|
0.400 |
PosttranslationalModification
|
group |
BEFREE |
The role of the LRRK2 gene in Parkinsonism.
|
25391693 |
2014 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
LRRK2 mutations were identified in 40 of 2523 PD patients (1.6%) and not in other primary parkinsonian syndromes.
|
24816003 |
2014 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
CTD_human |
G2019S LRRK2 mutant fibroblasts from Parkinson's disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy.
|
25017139 |
2014 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Variants of the MAPT gene have been suggested to be associated with Parkinson's disease (PD) and to modify the risk for leucine-rich repeat kinase 2 (LRRK2) Parkinsonism.
|
24559644 |
2014 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Prior studies causally linked mutations in SNCA, MAPT, and LRRK2 genes with familial Parkinsonism.
|
23507417 |
2013 |
Parkinsonian Disorders
|
0.400 |
Biomarker
|
group |
CTD_human |
Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism.
|
23046578 |
2013 |
Parkinsonian Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Leucine-rich repeat kinase 2 (LRRK2) mutation is the most common cause of genetic-related parkinsonism and is usually associated with Lewy body pathology; however, tau, α-synuclein, and ubiquitin pathologies have also been reported.
|
23664753 |
2013 |