|
Gaucher Disease, Type 1
|
|
0.850 |
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, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Further, in the GD1 group, the neurochemical profiles were compared between individuals with and without a single L444P allele.
|
31613991 |
2019 |
|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Our results suggest that GBA deficiency due to L444P GBA heterozygous mutation and the accompanying accumulation of α-synuclein render DA neurons more susceptible to MPTP intoxication.
|
29310663 |
2018 |
|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
|
30285649 |
2018 |
|
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
|
UNIPROT |
|
|
|
|
Gaucher Disease, Type 1
|
|
0.850 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Gaucher Disease, Type 1
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |