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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
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31292011 |
2020 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
We detected modest PD risk variant p.N409S (rs76763715) in one case, p.E365K (rs2230288) in 12 cases, and p.T408 M (rs75548401) in seven cases, one of whom also had p.E365K.
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31809948 |
2020 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
|
30810589 |
2019 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Using high-resolution, single-cell transcriptomic analyses of iPSC-derived dopamine neurons carrying the GBA-N370S PD risk variant, we identified a progressive axis of gene expression variation leading to endoplasmic reticulum stress.
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30503143 |
2019 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
To overcome these biases, we traced 13 Gaucher disease (GD) patients who were compound heterozygotes for one mild (N370S) and one severe GBA mutation and who reported a parent with PD.
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27864021 |
2018 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Pathogenic mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease (PD), of which L444P and N370S are the most frequently observed in patients with PD.
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29530815 |
2018 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, α-syn tetramers and related multimers are decreased in N370S <i>GBA1</i> Parkinson's disease (PD) induced pluripotent stem cell (iPSC)-derived human dopaminergic (hDA) neurons and murine neurons carrying the heterozygous L444P <i>GBA1</i> mutation.
|
29311330 |
2018 |
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Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of GBA mutations (L444P, N370S) in PD patients was higher compared to controls (odds ratio [OR] = 6.9, 95% confidence interval [CI], 0.9-53.13, p = 0.031), particularly in patients with early-onset compared to late-onset PD (OR = 3.90 [95% CI, 1.2-13.2], p = 0.009).
|
30146349 |
2018 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.
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28779532 |
2017 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
Using newly generated GD/PD mouse lines of either sex [<i>Gba</i> mutant (N370S, L444P, KO) crossed to α-synuclein transgenics], we show that <i>Gba</i> mutations predispose to PD through a loss-of-function mechanism.
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28847804 |
2017 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
The p.N370S and p.L444P variants in GBA contributed to a relative risk of 3.8 in early-onset PD and 2.5 in late-onset PD.
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29029963 |
2017 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, both L444P and N370S were associated with increased </span>PD risk.
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26868973 |
2016 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
The most common mutations of N370S and L444P accounted for 36.0% (9/25) of all the GBA mutations in this Eastern Canadian PD cohort.
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26000814 |
2016 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
We studied a set of monozygotic twins harboring the heterozygous glucocerebrosidase mutation (GBA N370S) but clinically discordant for PD.
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25456120 |
2014 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all.
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25111979 |
2014 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes.
|
22968580 |
2013 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
The N370S and R120W mutations were detected in neither the PD group nor the control subjects.
|
23227814 |
2012 |
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Parkinson Disease
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0.100 |
GeneticVariation
|
BEFREE |
The p.L444P mutation, but not p.N370S and p.R120W, was found to be associated with PD.
|
23286447 |
2012 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Genotyping of p.K-26R, p.K186R and the common p.N370S in an ethnically matched series consisting of 395 patients with PD and 372 control subjects did not show a statistically significant association (P>0.05).
|
19945510 |
2010 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Although PD cases (1.8%) had an increased frequency of N370S compared to controls (0.7%), the difference was not statistically significant (P = 0.290).
|
20528910 |
2010 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.
|
15517591 |
2005 |
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Parkinson Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
Thirty-one patients with Parkinson's disease (31.3 percent; 95 percent confidence interval, 22.2 to 40.4 percent) had one or two mutant GBA alleles: 23 were heterozygous for N370S, 4 were heterozygous for 84GG, 3 were homozygous for N370S, and 1 was heterozygous for R496H.
|
15525722 |
2004 |