|
Gaucher Disease
|
|
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 |
|
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 |
Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD.
|
30456712 |
2019 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In cells from patients with neuropathic GD and L444P/L444P genotype, the response to ambroxol was varied.
|
30662625 |
2018 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our study confirmed that GD patients with the Leu483Pro allele were prone to experience neurological symptoms.
|
29934114 |
2018 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
L444P was the most prevalent mutation and L444P homozygous genotype was associated with severe type 1 GD.
|
27865684 |
2018 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of 11 novel GBA alleles.
|
24022302 |
2014 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
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 |
|
Gaucher Disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
A common and two novel GBA mutations in Thai patients with Gaucher disease.
|
23719189 |
2013 |
|
Gaucher Disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
|
23430543 |
2013 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
We identified a novel L385R missense mutation that is associated with type 1 GD.
|
23426826 |
2012 |
|
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 |
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 |
We evaluated a multiplexed suspension array assay that includes wild-type and mutant genetic determinations for Gaucher disease allele c.1448T>C.
|
16887033 |
2006 |
|
Gaucher Disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
|
15605411 |
2005 |
|
Gaucher Disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
|
14757438 |
2004 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Expression studies revealed that the c.1093G>A (p.E326K) change, which was never found alone in a Gaucher disease-causing allele, when found in a double mutant such as [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]) and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]), decreases activity compared to the activity found for the other mutation alone.
|
15146461 |
2004 |
|
Gaucher Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two mutations, S364R and P266L, were associated with neuronopathic forms of Gaucher disease: S364R mutation in heterozygosity with the L444P mutation and the P266L mutation in a homozygous state.
|
11783951 |
2003 |