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Results: 1 to 20 of 121

1.

Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Bie H, Yin J, He X, Kermode AR, Goddard-Borger ED, Withers SG, James MN.

Nat Chem Biol. 2013 Nov;9(11):739-45. doi: 10.1038/nchembio.1357. Epub 2013 Sep 11. Erratum in: Nat Chem Biol. 2013 Nov;9(11):746.

PMID:
24036510
[PubMed - indexed for MEDLINE]
2.

Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds.

He X, Pierce O, Haselhorst T, von Itzstein M, Kolarich D, Packer NH, Gloster TM, Vocadlo DJ, Qian Y, Brooks D, Kermode AR.

Plant Biotechnol J. 2013 Dec;11(9):1034-43. doi: 10.1111/pbi.12096. Epub 2013 Jul 31.

PMID:
23898885
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.

Saito S, Ohno K, Maita N, Sakuraba H.

Mol Genet Metab. 2014 Feb;111(2):107-12. doi: 10.1016/j.ymgme.2013.10.005. Epub 2013 Oct 12.

PMID:
24480078
[PubMed - indexed for MEDLINE]
4.

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.

Hum Mutat. 2004 Sep;24(3):199-207.

PMID:
15300847
[PubMed - indexed for MEDLINE]
5.

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ.

Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4.

PMID:
23786846
[PubMed - indexed for MEDLINE]
6.

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.

Prommajan K, Ausavarat S, Srichomthong C, Puangsricharern V, Suphapeetiporn K, Shotelersuk V.

Mol Vis. 2011 Feb 11;17:456-60.

PMID:
21364962
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Synthesis of enzymatically active human alpha-L-iduronidase in Arabidopsis cgl (complex glycan-deficient) seeds.

Downing WL, Galpin JD, Clemens S, Lauzon SM, Samuels AL, Pidkowich MS, Clarke LA, Kermode AR.

Plant Biotechnol J. 2006 Mar;4(2):169-81.

PMID:
17177794
[PubMed - indexed for MEDLINE]
8.

Glycosidase active site mutations in human alpha-L-iduronidase.

Brooks DA, Fabrega S, Hein LK, Parkinson EJ, Durand P, Yogalingam G, Matte U, Giugliani R, Dasvarma A, Eslahpazire J, Henrissat B, Mornon JP, Hopwood JJ, Lehn P.

Glycobiology. 2001 Sep;11(9):741-50.

PMID:
11555618
[PubMed - indexed for MEDLINE]
Free Article
9.

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ.

Mol Genet Metab. 2003 Jan;78(1):37-43.

PMID:
12559846
[PubMed - indexed for MEDLINE]
10.

Long-term nonsense suppression therapy moderates MPS I-H disease progression.

Gunn G, Dai Y, Du M, Belakhov V, Kandasamy J, Schoeb TR, Baasov T, Bedwell DM, Keeling KM.

Mol Genet Metab. 2014 Mar;111(3):374-81. doi: 10.1016/j.ymgme.2013.12.007. Epub 2013 Dec 17.

PMID:
24411223
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase.

Mandelli J, Wajner A, Pires RF, Giugliani R, Coelho JC.

Arch Med Res. 2002 Jan-Feb;33(1):20-4.

PMID:
11825626
[PubMed - indexed for MEDLINE]
12.

Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Aronovich EL, Pan D, Whitley CB.

Am J Hum Genet. 1996 Jan;58(1):75-85.

PMID:
8554071
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Influence of an ER-retention signal on the N-glycosylation of recombinant human α-L-iduronidase generated in seeds of Arabidopsis.

He X, Haselhorst T, von Itzstein M, Kolarich D, Packer NH, Kermode AR.

Plant Mol Biol. 2012 May;79(1-2):157-69. doi: 10.1007/s11103-012-9902-5. Epub 2012 Mar 23.

PMID:
22442036
[PubMed - indexed for MEDLINE]
14.

Enzymatic correction and cross-correction of mucopolysaccharidosis type I fibroblasts by adeno-associated virus-mediated transduction of the alpha-L-iduronidase gene.

Hartung SD, Reddy RG, Whitley CB, McIvor RS.

Hum Gene Ther. 1999 Sep 1;10(13):2163-72.

PMID:
10498248
[PubMed - indexed for MEDLINE]
15.

Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.

Lee-Chen GJ, Lin SP, Tang YF, Chin YW.

Clin Genet. 1999 Jul;56(1):66-70.

PMID:
10466419
[PubMed - indexed for MEDLINE]
16.

A homology model for human alpha-l-iduronidase: insights into human disease.

Rempel BP, Clarke LA, Withers SG.

Mol Genet Metab. 2005 May;85(1):28-37. Epub 2005 Feb 10.

PMID:
15862278
[PubMed - indexed for MEDLINE]
17.

Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.

Lee-Chen GJ, Lin SP, Chen IS, Chang JH, Yang CW, Chin YW.

J Formos Med Assoc. 2002 Jun;101(6):425-8.

PMID:
12189649
[PubMed - indexed for MEDLINE]
18.

Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase.

Mandelli J, Wajner A, Pires R, Giugliani R, Coelho JC.

Clin Chim Acta. 2001 Oct;312(1-2):81-6.

PMID:
11580912
[PubMed - indexed for MEDLINE]
19.

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

Wang D, Shukla C, Liu X, Schoeb TR, Clarke LA, Bedwell DM, Keeling KM.

Mol Genet Metab. 2010 Jan;99(1):62-71. doi: 10.1016/j.ymgme.2009.08.002. Epub . Erratum in: Mol Genet Metab. 2010 Apr;99(4):439.

PMID:
19751987
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.

Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM.

Hum Mol Genet. 2001 Feb 1;10(3):291-9.

PMID:
11159948
[PubMed - indexed for MEDLINE]
Free Article
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