ライフサイエンスコーパス: alpha-L-iduronidase

1 disorder characterized by the deficiency of alpha-L-iduronidase.

2 by genetic deficiencies in IDUA, coding for alpha-l-iduronidase.

3 ls are gene-corrected with virally delivered alpha-L-iduronidase.

4 i.v. infusions of low-dose recombinant human alpha-l-iduronidase.

5 disease caused by a deficiency of the enzyme alpha-L-iduronidase.

6 mal storage disorder caused by deficiency of alpha-l-iduronidase.

7 s caused by mutations in idua, which encodes alpha-L-iduronidase, a gene addition strategy to prevent

8 ated studies, leukocyte 4 methylumbelliferyl-alpha-L-iduronidase activities in this kindred were as f

9 donor chimerism and normal peripheral-blood alpha-L-iduronidase activity (event-free survival rate,

10 Cord-blood donors had normal alpha-L-iduronidase activity (mean number of cells, 10.5

11 that neonatal BMT was effective at restoring alpha-l-iduronidase activity and clearing elevated glyco

12 Both the alpha-L-iduronidase activity and protein level resulting

13 X and W402X showed a significant increase in alpha-L-iduronidase activity when cultured in the presen

14 atory evaluations, measurements of leukocyte alpha-L-iduronidase activity, and urinary glycosaminogly

15 sulting in the restoration of 2.8% of normal alpha-L-iduronidase activity.

16 rmates (n = 24) heterozygous for the mutated alpha-L-iduronidase allele (carriers unaffected by the s

17 6-phosphate receptor-mediated uptake because alpha-l-iduronidase and alpha-glucosidase induced tolera

18 abolic disorder resulting from deficiency of alpha-L-iduronidase and lysosomal accumulation of glycos

19 der caused by deficiency of lysosomal enzyme alpha-L-iduronidase, and patients treated with allogenei

20 Dephospho-alpha-L-iduronidase-aptamer conjugate was taken up in sa

21 ase, beta-galactosidase, beta-glucuronidase, alpha-L-iduronidase, aryl sulfatase, and galactose-6-sul

22 (age, 5 to 22 years) with recombinant human alpha-L-iduronidase at a dose of 125,000 U per kilogram

23 examined the oligosaccharides of recombinant alpha-L-iduronidase at each of its six N-glycosylation s

24 The drug failed to change baseline plasma alpha-L-iduronidase but did increase leukocyte alpha-L-i

25 y (mucopolysaccharidosis IIIB, MPS IIIB) and alpha-l-iduronidase deficiency (MPS I) are heritable lys

26 onjugate was taken up in saturable manner by alpha-L-iduronidase-deficient mouse fibroblasts, with ha

27 gimen whereas ovalbumin and dephosphorylated alpha-l-iduronidase did not.

28 nts a strong antibody response to the enzyme alpha-l-iduronidase during enzyme replacement therapy of

29 storage disease caused by loss of the enzyme alpha-L-iduronidase (encoded by the IDUA gene), which pa

30 Fifty-four patients deficient in leukocyte alpha-L-iduronidase enzyme activity (median age, 1.8 yea

31 een the MDI at follow-up study and leukocyte alpha-L-iduronidase enzyme activity (P = .02).

32 rom a donor with homozygous normal leukocyte alpha-L-iduronidase enzyme activity.

33 A normal alpha-l-iduronidase enzyme level obtained post-HCT was a

34 ptamer was conjugated to a lysosomal enzyme, alpha-l-iduronidase, from which mannose 6-phosphate had

35 ficant P values, including rs6856425 tagging alpha-l-iduronidase (IDUA) (P = 2.1 x 10(-5), after Bonf

36 GALC enzyme that incorporates peptides from alpha-l-iduronidase (IDUA) and apolipoprotein E II (APO)

37 e lysosomal storage disorders resulting from alpha-L-iduronidase (IDUA) deficiency and iduronate-2-su

38 ran sulfate (HS) accumulation resulting from alpha-l-iduronidase (Idua) deficiency.

39 ncover a frame-shift insertion affecting the alpha-L-iduronidase (IDUA) gene (c.19_20insCGGCCCCC), a

40 a genetic deficiency of the lysosomal enzyme alpha-l-iduronidase (IDUA), exhibit accumulation of glyc

41 Using the same approach, we expressed alpha-L-iduronidase (IDUA), the defective enzyme in Muco

42 A lysosomal enzyme, alpha-L-iduronidase (IDUA), was used for biological and

43 ells could overexpress the lysosomal enzyme, alpha-l-iduronidase (IDUA), which is deficient in patien

44 saminoglycans due to a genetic deficiency of alpha-L-iduronidase (IDUA), which results in progressive

45 der caused by mutations in the gene encoding alpha-L-iduronidase (IDUA), which ultimately causes toxi

46 cells for production of a lysosomal enzyme, alpha-L-iduronidase (IDUA).

47 rder to avoid these sugars, the human enzyme alpha-L-iduronidase (IDUA, EC 3.2.1.76), with a C-termin

48 cale synthesis of substrates for the enzymes alpha-l-iduronidase, iduronate-2-sulfatase, and N-acetyl

49 of initiation of ERT with recombinant human alpha-L-iduronidase--improved enzyme uptake in organs.

50 -318 had failed to change baseline leukocyte alpha-L-iduronidase in a phase 1/2 trial.

51 e-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder.

52 alpha-L-Iduronidase is a lysosomal hydrolase that is def

53 Recombinant human alpha-L-iduronidase, isolated from secretions of an over

54 rler syndrome) is a congenital deficiency of alpha-L-iduronidase, leading to lysosomal storage of gly

55 Fusions of the human lysosomal enzymes alpha-l-iduronidase or acid alpha-glucosidase with the r

56 cin treatment produced a similar increase in alpha-L-iduronidase protein in Hurler cells.

57 Determination of alpha-L-iduronidase protein levels by an immunoquantific

58 aridosis I, treatment with recombinant human alpha-L-iduronidase reduces lysosomal storage in the liv

59 To understand the potential impact of alpha-L-iduronidase-specific antibodies, we studied whet

60 e replacement therapy with recombinant human alpha-L-iduronidase successfully reduces lysosomal stora

61 Fusion proteins comprised of RTB and human alpha-L-iduronidase, the corrective enzyme for Mucopolys

62 pha-L-iduronidase but did increase leukocyte alpha-L-iduronidase to within the normal range.

63 We found that alpha-L-iduronidase was not required for stem cell renew

64 Serum antibodies to alpha-L-iduronidase were detected in four patients.

65 ridosis I (MPS I) involves i.v. injection of alpha-l-iduronidase, which can be taken up by cells thro