|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The given study establishes p.Leu483Pro as the most prevalent mutation in the Indian patients with type 1 Gaucher disease that provide new insight into the molecular basis of Gaucher Disease in India.
|
30764785 |
2019 |
|
rs421016
|
|
|
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 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD.
|
30456712 |
2019 |
|
rs76763715
|
|
|
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 |
|
rs76763715
|
|
|
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 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The given study is the first report on the carrier frequency of the Leu444Pro mutant allele in an Indian population which will help understanding the burden and susceptibility of Gaucher disease to affect next generation in India.
|
30285649 |
2018 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In cells from patients with neuropathic GD and L444P/L444P genotype, the response to ambroxol was varied.
|
30662625 |
2018 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our study confirmed that GD patients with the Leu483Pro allele were prone to experience neurological symptoms.
|
29934114 |
2018 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
L444P was the most prevalent mutation and L444P homozygous genotype was associated with severe type 1 GD.
|
27865684 |
2018 |
|
rs76763715
|
|
|
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 |
|
rs76763715
|
|
|
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 |
|
rs76763715
|
|
|
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 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Interestingly, it is involved in Gaucher disease only when it forms part of a double-mutant allele, usually with the L444P mutation.
|
26965692 |
2017 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Amphiphilic glycomimetics encompassing a rigid, undistortable nortropane skeleton based on 1,6-anhydro-l-idonojirimycin and a polyfluorinated antenna, when formulated as the corresponding inclusion complexes with β-cyclodextrin (βCD), have been shown to behave as pharmacological chaperones (PCs) that efficiently rescue lysosomal β-glucocerebrosidase mutants associated with the neuronopathic variants of Gaucher disease (GD), including the highly refractory L444P/L444P and L444P/P415R single nucleotide polymorphs, in patient fibroblasts.
|
28171725 |
2017 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Alternatively, pharmacological chaperones (PCs) capable of restoring the correct folding and trafficking of the mutant enzyme represent promising alternative therapies.Here, we report on how the L444P mutation affects mitochondrial function in primary fibroblast derived from GD patients.
|
26045184 |
2015 |
|
rs421016
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Functional analysis of 11 novel GBA alleles.
|
24022302 |
2014 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We conclude that L444P is the most common mutant allele with exons 8 and 10 as the hot spot region of GBA gene observed in Indian GD patients.
|
24522292 |
2014 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Here, we report generation of cystic fibrosis (CF) and Gaucher's disease (GD) hiPSCs respectively from CF (homozygous for CFTRΔF508 mutation) and Type II GD [homozygous for β-glucocerebrosidase (GBA) 1448T>C mutation] patient fibroblasts, using CCR5- specific TALENs.
|
25245091 |
2014 |
|
rs76763715
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Glucocerebrosidase mutations in primary parkinsonism.
|
25249066 |
2014 |
|
rs76763715
|
|
|
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 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This first report of a germline mutation for a common point mutation leu444pro (c.1448 T>C;p.leu483pro) in GD has significant implications for molecular diagnostics and genetic counseling in recessive disorders.
|
22713811 |
2013 |
|
rs421016
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Efficient pharmacological chaperones for the L444P (trafficking-incompetent) mutant GCase enzyme associated with type 2 and 3 Gaucher disease (GD) were identified.
|
23606264 |
2013 |
|
rs421016
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A common and two novel GBA mutations in Thai patients with Gaucher disease.
|
23719189 |
2013 |
|
rs421016
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
|
23430543 |
2013 |
|
rs76763715
|
|
|
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 |