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 |
GeneticVariation
|
disease |
UNIPROT |
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
|
8213840 |
1993 |
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 |
GeneticVariation
|
disease |
UNIPROT |
We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome.
|
7550232 |
1995 |
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 |
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 |
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 |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Mucopolysaccharidosis V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome.
|
7550232 |
1995 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
|
8680403 |
1995 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mucopolysaccharidosis type I and craniosynostosis.
|
23917744 |
2013 |
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 |
CausalMutation
|
disease |
CLINVAR |
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
|
1301941 |
1992 |
Mucopolysaccharidosis V
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
|
10735634 |
2000 |
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 |
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 |