|
| |
IDUA
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 12818523 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17570076 |
Describe a cohort of 14 Hurler-Scheie patients homozygous for the p.Leu490Pro missense mutation in the alpha-L-iduronidase gene. |
| 15862278 |
Model provides insights into why certain point mutations produce misfolded proteins and lead to severe mucopolysaccharidosis I, while other mutations produce proteins with minor structural perturbations and therefore the attenuated form of the disease. |
| 15300847 |
6 new mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, & c.1269C>G (p.S423R), in a total of 14 different mutations, & 13 polymorphisms , including the new c.246C>G (p.H82Q), were found in 10 MPS I pts. |
| 16435195 |
analysis of Alpha-L-Iduronidase mutations in Mucopolysaccharidosis I in Tunisia |
| 12559846 |
Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. |
| 11825626 |
Results show that leukocyte IDUA from mucopolysaccharidosis I heterozygotes differs from the normal enzyme in terms of optimum pH, Km, Vmax and thermostability at 50 degrees C. |
Recent Publications on IDUA: |  |
A Self-inactivating gamma-Retroviral Vector Reduces Manifestations of Mucopolysaccharidosis I in Mice.
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to... | 22nd October, 2009
| Department of Medicine, Washington University School of Medicine, St
| Mol Ther. 2009 Oct 20.
DOI Direct Link |
Mutational Analysis of the alpha-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms.
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder... | 21st October, 2009
| 1 Department of Medical Molecular Genetics, National Research Centre ,
| Genet Test Mol Biomarkers. 2009 Oct 19.
DOI Direct Link |
Systemic correction of storage disease in MPS I NOD/SCID mice using the sleeping beauty transposon system.
The Sleeping Beauty (SB) transposon system is a nonviral vector that... | 14th October, 2009
| Department of Genetics, Cell Biology and Development, Center for Genome
| Mol Ther. 2009 Jul;17(7):1136-44. Epub 2009 Apr 21.
DOI Direct Link |
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
Here we report the characterization of a knock-in mouse model for the... | 16th September, 2009
| Department of Genetics, University of Alabama at Birmingham, Birmingham,
| Mol Genet Metab. 2009 Aug 21.
DOI Direct Link |
alpha-L-iduronidase therapy for mucopolysaccharidosis type I.
More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler... | 27th August, 2009
| Division of Hematology, Oncology, Blood and Marrow Transplantation,
| Biologics. 2008 Dec;2(4):743-51.
|
→View more research publications. |
IDUA results (if any) from reagent suppliers | 
|
alpha-L-Iduronidase/IDUA - R&D Systems
alpha-L-Iduronidase, encoded by the IDUA gene, is an important enzyme required for the lysosomal degradation of glycosaminoglycans (GAGs). ...
http://www.rndsystems.com/molecule_detail.aspx?m=3524...
|
 |
Search Results
Stock# - 004068 Strain name - B6.129-Idua/J JAX® Mice Database ... JAX Mice Database - 004083 NOD.129(B6)-Prkdc Idua/J ...
http://www.jax.org/search/Main.jsp?sg=4&qt=biomarker...
|
 |
alpha-L-iduronidase siRNA (h) sc-89031
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, IDUA, 3425, 4p16.3, NM_000203 ...
http://www.scbt.com/datasheet-89031-alpha-l-iduronidase-sirn...
|
 |
Search Results
JAX Mice Database - 004083 NOD.129(B6)-Prkdc Idua/J. Stock# - 004083 Strain name - NOD.129(B6)-Prkdc Idua/J JAX® Mice Database
...
http://www.jax.org/search/Main.jsp?sg=4&qt=preclinical...
|
 |
alpha-L-iduronidase Antibody / alpha-L-iduronidase Antibodies
alpha-L-iduronidase Antibody / alpha-L-iduronidase Antibodies.
http://www.scbt.com/table-alpha-l-iduronidase.html...
|
 |
June 08 NPR_no prices.indd
α-L-Iduronidase/IDUA. Human. Goat IgG. AF4119. 100 µg. IFN-α/β R2. Human. Sheep IgG ..... α-L-Iduronidase/IDUA. Human. Sheep IgG. BAF4119. 50 µg. IFN-α/β R2 ...
http://www.rndsystems.com/DAM_public/6006.pdf...
|
 |
alpha-L-iduronidase siRNA (m) sc-141030
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Mouse, Idua, 15932, 5 F, P48441 ...
http://www.scbt.com/ko/datasheet-141030-alpha-l-iduronidase-...
|
 |
Search Bioportfolio and other Life Science Sites for IDUA,
or search for IDUA on BioPortfolio's antibody search engine.
This page has been viewed 132 times
Recent Search Terms used to find this page: IDUA gene | IDUA gene p L238Q | -L-iduronidase test | p.H82Q in IDUA | idua km | idua km | L238Q mutation and iduronidase | IDURONIDASE LINKS | leukocyte IDUA | .
Resources from the NCBI used on this page, NCBI's standard disclaimer applies.
|
