|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination.
|
21113739 |
2011 |
|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
All but one patient with GD1/PD phenotype had at least one N370S GBA1 allele.
|
20177787 |
2010 |
|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Homozygous N370S GD leads to adult-onset progressive skeletal disease with relative sparing of the viscera, a strikingly high risk of multiple myeloma, and an increased risk of other cancers.
|
19260119 |
2009 |
|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
|
18979180 |
2008 |
|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Other characteristics of patients presenting with severe PH were poor compliance to ERT (4/9 patients) or no ERT (5/9 patients), a family history of a sib with GD and PH (2/2 patients), an excess of ACE I allele (OR 2.3, 95% CI 1.1-4.9, P=0.034) and an excess of non-N370S GBA mutation (OR 6.0, 95% CI 1.1-33, P=0.003).
|
12359135 |
2003 |
|
Gaucher Disease
|
|
0.800 |
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 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.
|
30635084 |
2019 |
|
Gaucher Disease
|
|
0.800 |
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 |
|
Gaucher Disease
|
|
0.800 |
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 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10-100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment).
|
29795570 |
2018 |
|
Gaucher Disease
|
|
0.800 |
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 |
|
Gaucher Disease
|
|
0.800 |
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 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These novel N-alkylated iminosugars are promising pharmacological chaperones for the treatment of N370S mutant Gaucher disease.
|
22286559 |
2012 |
|
Gaucher Disease
|
|
0.800 |
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 |
|
Gaucher Disease
|
|
0.800 |
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 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In this work, we investigated the possibility of a physical linkage between α-syn and GCase, examining both wild type and the GD-related N370S mutant enzyme.
|
21653695 |
2011 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The potential of these compounds as pharmaceutical chaperones was determined by analyzing their capacity for increasing GCase activity in GD lymphoblasts derived from N370S and L444P variants, two of the most prevalent Gaucher mutations.
|
21413704 |
2011 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Comparison of a molecular dynamics model with the X-ray structure of the N370S acid-beta-glucosidase mutant that causes Gaucher disease.
|
21724649 |
2011 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Rational design and synthesis of highly potent pharmacological chaperones for treatment of N370S mutant Gaucher disease.
|
19397268 |
2009 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.
|
19260119 |
2009 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
An Israeli Ashkenazi cohort of 420 patients with PD, 333 elderly controls, and 3,805 young controls was screened for eight GBA mutations, which are associated with mild (N370S, R496H) and severe (84GG, IVS2 + 1, V394L, D409H, L444P, RecTL) Gaucher disease.
|
18434642 |
2008 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
|
18979180 |
2008 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These data suggest that N370S, RecNciI, and L444P are the most prevalent mutations in Hungarian patients with GD.
|
17395504 |
2007 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Among the 74 patients with Alzheimer's disease, 3 were identified as carriers of Gaucher's disease (4.1 percent; 95 percent confidence interval, 0.0 to 8.5 percent): 2 were heterozygous for N370S, and 1 was heterozygous for 84GG.
|
15525722 |
2004 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
We examined the DNA from 62 patients with Gaucher disease who were homozygous for the 1226A-->G (N370S) mutation and from 542 control subjects from various populations for these polymorphisms.
|
15322500 |
2004 |