|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is a rare autosomal storage disorder resulting from the defective alpha-L-iduronidase (encoded by IDUA) enzyme activity and accumulation of glycosaminoglycans (GAGs) in lysosomes.
|
31758674 |
2020 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme.
|
28619065 |
2017 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
|
19954743 |
2010 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.
|
21364962 |
2011 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
The IDUA mutations in five MPS I patients from three unrelated families from central and southern Tunisia were determined by amplifying and sequencing each of the IDUA exons and intron-exon junctions.
|
16435195 |
2005 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Two mucopolysaccharidosis type I (MPS-I) patients, subjected to bone marrow transplantation (BMT) more than 10 years ago, have recently had their alpha-L-iduronidase genotypes defined.
|
8127052 |
1993 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.
|
21480867 |
2012 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the capacity of the recombinant form of the human IDUA enzyme, laronidase (Aldurazyme®), conjugated with CNTs to be internalized by fibroblasts from subjects affected with Mucopolysaccharidosis type I and the capacity of the enzyme to retain its activity after internalization.
|
29239447 |
2018 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate.
|
28676128 |
2017 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
|
21394825 |
2011 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α-L-iduronidase (IDUA) gene.
|
31194252 |
2019 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
|
21394825 |
2011 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis Type I (MPS I) is the lysosomal storage disease caused by the deficient activity of alpha-L-iduronidase (IDUA).
|
10356309 |
1999 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this work, fibroblasts from MPS I patients (p.W402X/p.W402X; p.R89W/p.W402X and p.Q70X/c.1739-1g > t) were treated with chloramphenicol, which resulted in 100-fold increase on IDUA activity on compound heterozygous fibroblasts. cDNA sequencing showed that only the alleles without the nonsense mutation were being amplified, even after treatment, leading us to suggest that the nonsense alleles were targeted to nonsense-mediated mRNA decay and that chloramphenicol acts through a mechanism other than SCRT.
|
23167761 |
2013 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
|
14559116 |
2003 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-l-iduronidase (IDUA), and patients with MPSI are currently treated with IDUA enzyme replacement therapy (ERT).
|
28279069 |
2017 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The treatment of MPS I patient's fibroblasts homozygous for the p.Trp402<sup>∗</sup> mutation led to a significant increase in IDUA activity at 2, 15, and 30 days when compared to MPS I untreated fibroblasts.
|
29122734 |
2018 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
|
15300847 |
2004 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates.
|
21521498 |
2011 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The terminal parietal branches of the abdominal aorta were examined from a colony of dogs homozygous (MPS-I affected) or heterozygous (unaffected carrier) for an IdU mutation that eliminated all enzyme activity, and in affected animals treated with human recombinant IdU.
|
21383673 |
2011 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.
|
24480078 |
2014 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A defect of the lysosomal enzyme alpha-L-iduronidase (IDUA) interrupts heparan and dermatan sulfate degradation and causes neuropathology in children with severe forms of mucopolysaccharidosis type I (MPSI, Hurler syndrome).
|
15236403 |
2004 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Eco47III and NspI intragenic polymorphisms in IDUA gene were studied in 262 (524 chromosomes) Mexican healthy subjects and in 53 (106 chromosomes) MPS-I patients.
|
12818523 |
2004 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A group of 27 Italian patients was screened for alpha-L-iduronidase mucopolysaccharidosis type I mutations.
|
9427149 |
1997 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is an autosomal disease caused by alpha-l-iduronidase (IDUA) deficiency.
|
28352175 |
2017 |