248 related articles for article (PubMed ID: 33389473)
1. 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]
2. Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I.
Brooks DA
Expert Opin Biol Ther; 2002 Dec; 2(8):967-76. PubMed ID: 12517274
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15300847
[TBL] [Abstract][Full Text] [Related]
4. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.
Johnson BA; Dajnoki A; Bodamer OA
Curr Protoc Hum Genet; 2015 Jan; 84():17.17.1-17.17.8. PubMed ID: 25599668
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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. PubMed ID: 24480078
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 24036510
[TBL] [Abstract][Full Text] [Related]
9. Human α-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module.
Maita N; Tsukimura T; Taniguchi T; Saito S; Ohno K; Taniguchi H; Sakuraba H
Proc Natl Acad Sci U S A; 2013 Sep; 110(36):14628-33. PubMed ID: 23959878
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Chkioua L; Boudabous H; Jaballi I; Grissa O; Turkia HB; Tebib N; Laradi S
Diagn Pathol; 2018 May; 13(1):35. PubMed ID: 29843745
[TBL] [Abstract][Full Text] [Related]
12. p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L; Ketudat-Cairns JR; Sawangareetrakul P; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Tim-Aroon T; Wattanasirichaigoon D; Svasti J
Ann Hum Genet; 2018 May; 82(3):150-157. PubMed ID: 29282708
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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; 17():456-60. PubMed ID: 21364962
[TBL] [Abstract][Full Text] [Related]
15. Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.
Delgado Luengo WN; Miranda Contreras LE; Chávez CJ; Solis-Añez E; Cammarata-Scalisi F
Invest Clin; 2014 Dec; 55(4):365-70. PubMed ID: 25558755
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
Gabrielli O; Clarke LA; Ficcadenti A; Santoro L; Zampini L; Volpi N; Coppa GV
BMC Med Genet; 2016 Mar; 17():19. PubMed ID: 26965916
[TBL] [Abstract][Full Text] [Related]
20. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
Zahoor MY; Cheema HA; Ijaz S; Anjum MN; Ramzan K; Bhinder MA
J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1221-1227. PubMed ID: 31473686
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
