393 related articles for article (PubMed ID: 11159948)
1. 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; 10(3):291-9. PubMed ID: 11159948
[TBL] [Abstract][Full Text] [Related]
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; 338(3):453-62. PubMed ID: 15081804
[TBL] [Abstract][Full Text] [Related]
3. Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells.
Ngiwsara L; Sawangareetrakul P; Wattanasirichaigoon D; Tim-Aroon T; Dejkhamron P; Champattanachai V; Ketudat-Cairns JR; Svasti J
Biochem Biophys Res Commun; 2022 Dec; 636(Pt 1):147-154. PubMed ID: 36332477
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 22056610
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 24411223
[TBL] [Abstract][Full Text] [Related]
6. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system.
Keeling KM; Bedwell DM
J Mol Med (Berl); 2002 Jun; 80(6):367-76. PubMed ID: 12072912
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19751987
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 23786846
[TBL] [Abstract][Full Text] [Related]
9. Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.
Swaroop M; Brooks MJ; Gieser L; Swaroop A; Zheng W
Hum Mol Genet; 2018 Oct; 27(20):3612-3626. PubMed ID: 30052969
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 12189649
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 10466419
[TBL] [Abstract][Full Text] [Related]
12. A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
Bremer S; Ohlsson A; Brodtkorb E; Rootwelt H; Rootwelt T; Woldseth B; Mørkrid L
Mol Genet Metab; 2011 Nov; 104(3):289-94. PubMed ID: 21831683
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 1301941
[TBL] [Abstract][Full Text] [Related]
14. Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.
Menon KP; Neufeld EF
Cell Mol Biol (Noisy-le-grand); 1994 Nov; 40(7):999-1005. PubMed ID: 7849567
[TBL] [Abstract][Full Text] [Related]
15. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
Ahmed A; Whitley CB; Cooksley R; Rudser K; Cagle S; Ali N; Delaney K; Yund B; Shapiro E
Mol Genet Metab; 2014 Feb; 111(2):123-7. PubMed ID: 24368159
[TBL] [Abstract][Full Text] [Related]
16. c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I; Jiménez-Mariscal JL; Cerón M; Rosas-Trigueros J; Reyes-López CA
Protein J; 2021 Feb; 40(1):68-77. PubMed ID: 33389473
[TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Bunge S; Clements PR; Byers S; Kleijer WJ; Brooks DA; Hopwood JJ
Biochim Biophys Acta; 1998 Sep; 1407(3):249-56. PubMed ID: 9748610
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 23167761
[TBL] [Abstract][Full Text] [Related]
19. Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants.
Fortuin JJ; Kleijer WJ
Hum Genet; 1980 Feb; 53(2):155-9. PubMed ID: 6766899
[TBL] [Abstract][Full Text] [Related]
20. Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
Scott HS; Litjens T; Nelson PV; Thompson PR; Brooks DA; Hopwood JJ; Morris CP
Am J Hum Genet; 1993 Nov; 53(5):973-86. PubMed ID: 8213840
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
