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Items: 1 to 20 of 96

1.

Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.

Kamei M, Kasperski K, Fuller M, Parkinson-Lawrence EJ, Karageorgos L, Belakhov V, Baasov T, Hopwood JJ, Brooks DA.

JIMD Rep. 2014;13:139-47. doi: 10.1007/8904_2013_270. Epub 2013 Nov 6.

2.

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA.

J Mol Biol. 2004 Apr 30;338(3):453-62.

PMID:
15081804
3.
4.

Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients.

Mayer FQ, Artigalás OA, Lagranha VL, Baldo G, Schwartz IV, Matte U, Giugliani R.

Curr Pharm Biotechnol. 2013;14(2):194-8.

PMID:
23167761
5.

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A.

Hum Mol Genet. 1994 Jun;3(6):861-6.

PMID:
7951228
6.
7.

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP.

Hum Mutat. 1992;1(4):333-9.

PMID:
1301941
8.

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):374-381. doi: 10.1016/j.ymgme.2013.12.007. Epub 2013 Dec 17.

9.

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.

Wang D, Belakhov V, Kandasamy J, Baasov T, Li SC, Li YT, Bedwell DM, Keeling KM.

Mol Genet Metab. 2012 Jan;105(1):116-25. doi: 10.1016/j.ymgme.2011.10.005. Epub 2011 Oct 19.

11.

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L.

Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812.

12.

Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Sun L, Li C, Song X, Zheng N, Zhang H, Dong G.

Genet Mol Biol. 2011 Apr;34(2):195-200. Epub 2011 Apr 1.

13.

Unique frequency of known mutations in Brazilian MPS I patients.

Matte U, Leistner S, Lima L, Schwartz I, Giugliani R.

Am J Med Genet. 2000 Jan 17;90(2):108-9.

PMID:
10607946
14.

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

Yamagishi A, Tomatsu S, Fukuda S, Uchiyama A, Shimozawa N, Suzuki Y, Kondo N, Sukegawa K, Orii T.

Hum Mutat. 1996;7(1):23-9.

PMID:
8664897
15.

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG.

Hum Genet. 2001 Nov;109(5):503-11. Epub 2001 Oct 19.

PMID:
11735025
16.

Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

Voskoboeva EY, Krasnopolskaya XD, Mirenburg TV, Weber B, Hopwood JJ.

Mol Genet Metab. 1998 Oct;65(2):174-80.

PMID:
9787109
17.

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. Erratum in: Mol Genet Metab. 2010 Apr;99(4):439.

18.
19.

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

Scott HS, Litjens T, Hopwood JJ, Morris CP.

Hum Mutat. 1992;1(2):103-8.

PMID:
1301196
20.

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS.

Hum Mutat. 1994;3(3):275-82.

PMID:
8019563

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