ライフサイエンスコーパス: alpha-L-iduronidase

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

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

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

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

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

6 disorder characterized by the 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 y (mucopolysaccharidosis IIIB, MPS IIIB) and alpha-l-iduronidase deficiency (MPS I) are heritable lys

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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