|
rs1289324472
|
|
Parkinson Disease
|
|
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 |
|
rs1289324472
|
|
Gaucher Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.
|
30635084 |
2019 |
|
rs1289324472
|
|
Gaucher Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, this similarity between GBA carriers and patients with GD persists when comparing only carriers of the N370S (c.1226A>G) mutation (n = 38) with untreated patients with GD who were homozygotes for the same mutation (n = 47).
|
30714262 |
2019 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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.
|
30503143 |
2019 |
|
rs1289324472
|
|
Gaucher Disease
|
|
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.
|
27864021 |
2018 |
|
rs1289324472
|
|
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 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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.
|
29530815 |
2018 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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.
|
27864021 |
2018 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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 |
|
rs1289324472
|
|
Gaucher Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The p.Trp378Gly mutation is the first French-Canadian founder GBA mutation to be described, which leads to synucleinopathies and to GD type 1 when in compound heterozygosity with p.Asn370Ser.
|
29920646 |
2018 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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.
|
28847804 |
2017 |
|
rs1289324472
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.
|
28779532 |
2017 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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.
|
29029963 |
2017 |
|
rs1289324472
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, both L444P and N370S were associated with increased </span>PD risk.
|
26868973 |
2016 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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.
|
26000814 |
2016 |
|
rs1289324472
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We studied a set of monozygotic twins harboring the heterozygous glucocerebrosidase mutation (GBA N370S) but clinically discordant for PD.
|
25456120 |
2014 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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.
|
25111979 |
2014 |
|
rs1289324472
|
|
Gaucher Disease
|
|
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.
|
25111979 |
2014 |
|
rs1289324472
|
|
Parkinson Disease
|
|
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 |
|
rs1289324472
|
|
Gaucher Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
GBA1 heterozygotes with non-N370S mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations.
|
22968580 |
2013 |
|
rs1289324472
|
|
Gaucher Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Molecular analysis revealed a status of compound heterozygous for the panethnic mutation N370S and for the sequence variation E388K, not yet correlated to Gaucher disease onset.
|
22820396 |
2012 |
|
rs1289324472
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The p.L444P mutation, but not p.N370S and p.R120W, was found to be associated with PD.
|
23286447 |
2012 |
|
rs1289324472
|
|
Gaucher Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
|
22388998 |
2012 |
|
rs1289324472
|
|
Gaucher Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
These novel N-alkylated iminosugars are promising pharmacological chaperones for the treatment of N370S mutant Gaucher disease.
|
22286559 |
2012 |
|
rs1289324472
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The N370S and R120W mutations were detected in neither the PD group nor the control subjects.
|
23227814 |
2012 |