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 shows significant corneal clouding that is success

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

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

5 transcripts in liver for MPS II (n = 2) and MPS I (n = 1) subjects.

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

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

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

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

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

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

12 this variant represent a promising model for MPS I with neurological abnormalities in humans.

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

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

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

16 editing therapy in mucopolysaccharidosis I (MPS I) (n = 3), MPS II (n = 9), and hemophilia B (n = 1)

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

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

19 Mucopolysaccharidosis type I (MPS I) causes systemic accumulation of glycosaminoglycan

20 Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal disorder that causes sy

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

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

23 patients with mucopolysaccharidosis type I (MPS I).

24 patients with mucopolysaccharidosis type I (MPS I).

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

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

27 mia (HT-I) and mucopolysaccharidosis type I (MPS-I)] in mice by HDR-based correction of the disease a

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

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

30 spleen with complete metabolic correction in MPS I mice.

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

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

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

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

35 hat play key roles in learning and memory in MPS I mice, and that adeno-associated virus (AAV)-mediat

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

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

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

39 Using logistic regression in MPS I and treated animals, we identified functional netw

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

41 0.05) in all disease groups apart from mild MPS-I and -II.

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

43 models of other forms of neuronopathic MPS, MPS-I, and MPS-IIIC.

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

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

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

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

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

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

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

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

52 therapy in an immunodeficient mouse model of MPS I.

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

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

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

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

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

58 -sulfatase approaching normal levels and one MPS I subject approached mid-normal levels of leukocyte

59 stimates than the control subjects, but only MPS I and IV had higher corrected IOP estimates than the

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

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

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

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

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

65 The MPS I subject also had a transient increase in leukocyte

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

67 lycosaminoglycan accumulation in all treated MPS I mice.

68 confirmed in 32 patients, including 25 with MPS I, 4 with MPS II, 1 with MPS IVA, and 2 with MPS VI.

69 collected for 75 patients, including 45 with MPS I, 9 with MPS II, 13 with MPS IVA, and 8 with MPS VI

70 ical and behavioral deficits associated with MPS I, neither the underlying alterations in functional

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

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

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

74 udy reviewed 15 corneas from 9 patients with MPS I spectrum disease who underwent corneal transplant

75 27 consecutive MPS patients (8 patients with MPS I, 4 patients with MPS II, 9 patients with MPS IV, a

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

77 atory efficacy of JR-171 in 18 patients with MPS I.

78 es (6 patients) of 15 eyes (8 patients) with MPS I had narrow angles or peripheral iridocorneal touch

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

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