|
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
So far, more than 100 IDUA causative mutations have been identified leading to three MPS I phenotypic subtypes: Hurler syndrome (severe form), Hurler/Scheie syndrome (intermediate form), and Scheie syndrome (mild form).
|
31758674 |
2020 |
|
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying an IDUA gene mutation (c.266G > A; p.R89Q).
|
30849633 |
2019 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
BEFREE |
The NSCs exhibited characteristic disease phenotypes with deficiency of IDUA, accumulation of GAGs and enlargement of lysosomes, in agreement with the severity of clinical subgroups of MPS I. Transcriptome profiling of NSCs revealed 429 genes that demonstrated a more extensive change in expression in the most severe Hurler syndrome subgroup compared to the intermediate Hurler-Scheie or the least severe Scheie syndrome subgroups.
|
30052969 |
2018 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.
|
25256405 |
2015 |
|
Mucopolysaccharidosis V
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
|
24368159 |
2014 |
|
Mucopolysaccharidosis V
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
|
23786846 |
2013 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mucopolysaccharidosis type I and craniosynostosis.
|
23917744 |
2013 |
|
Mucopolysaccharidosis V
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
|
22976768 |
2013 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
CTD_human |
Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor.
|
22822036 |
2012 |
|
Mucopolysaccharidosis V
|
0.760 |
Therapeutic
|
disease |
CTD_human |
Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor.
|
22822036 |
2012 |
|
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
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 V
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
|
19751987 |
2010 |
|
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
|
19396826 |
2009 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
CTD_human |
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.
|
19309154 |
2009 |
|
Mucopolysaccharidosis V
|
0.760 |
Therapeutic
|
disease |
CTD_human |
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.
|
19309154 |
2009 |
|
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
|
15300847 |
2004 |
|
Mucopolysaccharidosis V
|
0.760 |
Therapeutic
|
disease |
CTD_human |
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.
|
15194053 |
2004 |
|
Mucopolysaccharidosis V
|
0.760 |
Therapeutic
|
disease |
CTD_human |
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
|
15081804 |
2004 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
CTD_human |
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.
|
15194053 |
2004 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
CTD_human |
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
|
15081804 |
2004 |
|
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
|
12559846 |
2003 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I; McKusick 25280; Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome) is caused by a deficiency in the lysosomal hydrolase, alpha-L-iduronidase (EC 3.2.1.76).
|
14559116 |
2003 |
|
Mucopolysaccharidosis V
|
0.760 |
Therapeutic
|
disease |
CTD_human |
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
|
11159948 |
2001 |
|
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
CTD_human |
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
|
11159948 |
2001 |