ライフサイエンスコーパス: MPS-I

1 MPS I is currently treated with hematopoietic stem cell

2 MPS-I and -II groups were further subdivided according t

3 entify the onset of functional deficits in a MPS I mouse model (IDUA(-/-)), we evaluated anxiety, loc

4 lls appear at 1 and 6 months in MPS IIIB and MPS I mice, respectively, but though their number increa

5 mmature and mature ORNs were present in both MPS I and VI affected OE, the OE of MPS I-affected cats

6 erapy with recombinant iduronidase in canine MPS I and could potentially improve outcomes in patients

7 Given that the best characterized MPS-I murine model is an immunocompetent mouse, we here

8 PS IIIB) and alpha-l-iduronidase deficiency (MPS I) are heritable lysosomal storage diseases; neurode

9 anines and humans with iduronidase-deficient MPS I, but therapy usually also induces antibodies speci

10 This study explores a potential therapy for MPS-I at a very early stage in life and represents a nov

11 We treated four MPS I cats at 3-5 mo of age with an adeno-associated vir

12 Additional studies in cultured neurons from MPS I mice showed that elevated spermine was essential f

13 mal storage disease mucopolysaccharidosis I (MPS I) involves i.v. injection of alpha-l-iduronidase, w

14 Mucopolysaccharidosis I (MPS I) is an inherited metabolic disorder resulting from

15 Mucopolysaccharidosis type I (MPS I) is one of the most common lysosomal storage disea

16 Patients with mucopolysaccharidosis type I (MPS I), a genetic deficiency of the lysosomal enzyme alp

17 patients with mucopolysaccharidosis type I (MPS I).

18 patients with mucopolysaccharidosis type I (MPS I).

19 ic storage disease, mucopolysaccharidosis I (MPS-I).

20 Mucopolysaccharidosis type I (MPS-I) is a progressive multi-system disorder caused by

21 rler syndrome (mucopolysaccharidosis type I [MPS I]).

22 In MPS I patients, elevated CSF spermine was restricted to

23 spleen with complete metabolic correction in MPS I mice.

24 the central nervous system lesions found in MPS I but not MPS VI.

25 OE organization and impaired ORN function in MPS I, but not MPS VI, corresponds to the central nervou

26 glycosaminoglycan and beta-hexosaminidase in MPS I mice 5 mo after moderate yet sustained delivery of

27 ain pathology were significantly improved in MPS I mice by erythroid-derived, higher than normal peri

28 ormal brain IDUA activities were obtained in MPS I mice, and IDUAe1 protein was detected in neurons a

29 eviously observed in this animal model or in MPS I patients treated with current therapies.

30 n contrast, viable ORNs were as prevalent in MPS I as in controls but were significantly less likely

31 f testing the therapeutic efficacy of UCB in MPS-I mice transplanted at birth, we first defined the f

32 0.05) in all disease groups apart from mild MPS-I and -II.

33 was elevated in neuropathic subtypes of MPS (MPS I, II, IIIA, IIIB), but not in subtypes in which cog

34 Using a murine MPS I model, we demonstrated that megakaryocyte/platelet

35 is that transplanting normal BM into newborn MPS I mice soon after birth can prevent skeletal dysplas

36 nsplantation in busulfan-conditioned newborn MPS-I mice.

37 prominent in MPS IIIB and in severe cases of MPS I.

38 disease phenotype in both viscera and CNS of MPS I mice.

39 d to metabolize stored glycosaminoglycans of MPS I and MPS VI, indicating that overexpression could n

40 l fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, sper

41 sing the naturally occurring feline model of MPS I, we tested liver-directed gene therapy as a means

42 ory receptor neurons (ORNs) in cat models of MPS I, a type in which neuronal lesions are prominent, a

43 in both MPS I and VI affected OE, the OE of MPS I-affected cats was structurally disorganized.

44 life markedly reduces signs and symptoms of MPS I before they appear.

45 Urine samples from a small cohort of MPS-I, -II, and -VI patients (n = 12) were analyzed usin

46 activity was increased in visceral organs of MPS-I animals, glycosaminoglycans storage was reduced, a

47 larger validation cohort of patient samples (MPS-I n = 18, MPS-II n = 12, MPS-VI n = 6, control n = 2

48 re achieved in vivo in primary and secondary MPS I chimeras for at least 9 months after transplantati

49 ein 7 concentrations were elevated in severe MPS I and II groups.

50 d in selected children with Hurler syndrome (MPS I H) after successful engraftment with genotypically

51 We conclude that MPS I H patients with a baseline MDI greater than 70 who

52 Tolerized MPS I dogs treated with the higher dose received some fu

53 lycosaminoglycan accumulation in all treated MPS I mice.

54 therapeutic efficacy of ERT in canines with MPS I (see the related article beginning on page 2868).

55 A total of 24 canines with MPS I were either tolerized to iduronidase or left nonto

56 otentially improve outcomes in patients with MPS I and other lysosomal storage diseases.

57 ponse to ERT has been shown in patients with MPS I, little is known about what effect anti-enzyme ant

58 an, 1.7 years; range, 0.9 to 3.2 years) with MPS I H received high-dose chemotherapy with or without

59 Thirteen of 32 dogs (41%) with MPS-I developed multiple portocaval shunts between 4 and