139 related articles for article (PubMed ID: 38250526)
1. Molecular docking analysis of a dermatan sulfate tetra-saccharide to human alpha-L-iduronidase.
Durán-Gutiérrez DP; López-Hidalgo M; Peña-Gomar IM; Zamorano-Carrillo A; Gómez-Esquivel ML; Castrejón-Flores JL; Reyes-López CA
Bioinformation; 2023; 19(12):1116-1123. PubMed ID: 38250526
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts.
Unger EG; Durrant J; Anson DS; Hopwood JJ
Biochem J; 1994 Nov; 304 ( Pt 1)(Pt 1):43-9. PubMed ID: 7998955
[TBL] [Abstract][Full Text] [Related]
5. Inhibitors of dermatan sulfate epimerase 1 decreased accumulation of glycosaminoglycans in mucopolysaccharidosis type I fibroblasts.
Maccarana M; Li B; Li H; Fang J; Yu M; Li JP
Glycobiology; 2024 Apr; 34(6):. PubMed ID: 38760939
[TBL] [Abstract][Full Text] [Related]
6. Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
Tebani A; Zanoutene-Cheriet L; Adjtoutah Z; Abily-Donval L; Brasse-Lagnel C; Laquerrière A; Marret S; Chalabi Benabdellah A; Bekri S
Int J Mol Sci; 2016 May; 17(5):. PubMed ID: 27196898
[TBL] [Abstract][Full Text] [Related]
7. Heparan sulfate and dermatan sulfate from the liver of a patient with Hurler syndrome: high performance liquid chromatography of their degradation products after incubation with alpha-L-iduronidase-deficient fibroblasts.
Minami R; Fujibayashi S; Igarashi C; Ishikawa Y; Wagatsuma K; Nakao T; Tsugawa S
Clin Chim Acta; 1984 Feb; 137(2):179-87. PubMed ID: 6231139
[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. 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]
10. Lessons from molecular modeling human α-L-iduronidase.
Figueiredo DF; Antunes DA; Rigo MM; Mendes MF; Silva JP; Mayer FQ; Matte U; Giugliani R; Vieira GF; Sinigaglia M
J Mol Graph Model; 2014 Nov; 54():107-13. PubMed ID: 25459762
[TBL] [Abstract][Full Text] [Related]
11. A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
Li Y; Tang X; Meng Y; Luo G; Yu X
J Genet; 2019 Sep; 98():. PubMed ID: 31544795
[TBL] [Abstract][Full Text] [Related]
12. Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.
Scott HS; Ashton LJ; Eyre HJ; Baker E; Brooks DA; Callen DF; Sutherland GR; Morris CP; Hopwood JJ
Am J Hum Genet; 1990 Nov; 47(5):802-7. PubMed ID: 2220820
[TBL] [Abstract][Full Text] [Related]
13. Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.
Ashton LJ; Brooks DA; McCourt PA; Muller VJ; Clements PR; Hopwood JJ
Am J Hum Genet; 1992 Apr; 50(4):787-94. PubMed ID: 1550122
[TBL] [Abstract][Full Text] [Related]
14. The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
Polo G; Gueraldi D; Giuliani A; Rubert L; Cazzorla C; Salviati L; Marzollo A; Biffi A; Burlina AP; Burlina AB
Clin Chem Lab Med; 2020 Nov; 58(12):2063-2072. PubMed ID: 32432561
[TBL] [Abstract][Full Text] [Related]
15. Discovery of small-molecule protein stabilizers toward exogenous alpha-l-iduronidase to reduce the accumulated heparan sulfate in mucopolysaccharidosis type I cells.
Lin HY; Chang SY; Teng HH; Wu HJ; Li HY; Cheng CC; Chuang CK; Lin HY; Lin SP; Cheng WC
Eur J Med Chem; 2023 Feb; 247():115005. PubMed ID: 36563498
[TBL] [Abstract][Full Text] [Related]
16. Human alpha-L-iduronidase: cDNA isolation and expression.
Scott HS; Anson DS; Orsborn AM; Nelson PV; Clements PR; Morris CP; Hopwood JJ
Proc Natl Acad Sci U S A; 1991 Nov; 88(21):9695-9. PubMed ID: 1946389
[TBL] [Abstract][Full Text] [Related]
17. Enzyme replacement with transferrin receptor-targeted α-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice.
Kida S; Koshimura Y; Yoden E; Yoshioka A; Morimoto H; Imakiire A; Tanaka N; Tanaka S; Mori A; Ito J; Inoue A; Yamamoto R; Minami K; Hirato T; Takahashi K; Sonoda H
Mol Ther Methods Clin Dev; 2023 Jun; 29():439-449. PubMed ID: 37251981
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
Chuang CK; Lin HY; Wang TJ; Huang YH; Chan MJ; Liao HC; Lo YT; Wang LY; Tu RY; Fang YY; Chen TL; Ho HC; Chiang CC; Lin SP
Orphanet J Rare Dis; 2018 May; 13(1):84. PubMed ID: 29801497
[TBL] [Abstract][Full Text] [Related]
20.
De Filippis C; Napoli B; Rigon L; Guarato G; Bauer R; Tomanin R; Orso G
Cells; 2021 Dec; 11(1):. PubMed ID: 35011691
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]