ライフサイエンスコーパス: Niemann-Pick disease

1 f the inherited human disorder types A and B Niemann-Pick disease.

2 h pulmonary function in patients with type B Niemann-Pick disease.

3 ASM knock-out (ASMKO) mouse model of Type A Niemann-Pick disease.

4 ut (ASMKO) mice are a model of types A and B Niemann-Pick disease.

5 c cargo (acid sphingomyelinase, deficient in Niemann-Pick disease A-B) was enhanced to all affected o

6 e existing assisted reproduction options for Niemann-Pick disease carrier couples.

7 nase secretion, but this was not observed in Niemann-Pick disease cells.

8 Mutations in the Niemann-Pick disease genes cause lysosomal cholesterol a

9 essful treatment of pulmonary involvement by Niemann-Pick disease has been documented.

10 id sphingomyelinase (ASM)-deficient forms of Niemann-Pick disease (i.e. Types A and B NPD).

11 One form of Niemann-Pick disease is caused by a deficiency in the en

12 Niemann-Pick disease is caused by a genetic deficiency i

13 The Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders d

14 The type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders d

15 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorde

16 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorde

17 Niemann-Pick disease (NPD) is a lysosomal storage diseas

18 Niemann-Pick disease (NPD) is caused by the loss of acid

19 Types A and B Niemann-Pick disease (NPD) result from the deficient act

20 nvolvement in the lysosomal storage disorder Niemann-Pick disease (NPD).

21 hydrolase that is deficient in types A and B Niemann-Pick disease (NPD).

22 ncy of ASM activity results in Types A and B Niemann-Pick disease (NPD).

23 worldwide sample of 394 patients with type B Niemann-Pick disease (NPD).

24 ctivity results in the Type A and B forms of Niemann-Pick disease (NPD).

25 results in the lipid storage disease type A Niemann-Pick disease (NPD-A), mimicked in mice by interr

26 Niemann-Pick disease, originally defined in terms of its

27 Although studies using lymphoblasts from Niemann-Pick disease patients or acid sphingomyelinase (

28 s like those lacking caveolins or those from Niemann-Pick disease patients.

29 ewborn ASMKO mice could prevent or alter the Niemann-Pick disease phenotype.

30 In Type B Niemann-Pick disease, progressive pulmonary infiltration

31 sis of cell lines derived from patients with Niemann-Pick disease that lack acidic sphingomyelinase a

32 Cells from both human and murine Niemann-Pick disease type A have been studied to assess

33 These include cathepsins and Niemann-Pick disease type A, B, and C genes.

34 uscinosis, neuronal 2, CLN2), Fabry, Farber, Niemann-Pick disease type A, Sanfilippo type B (mucopoly

35 Niemann-Pick disease Type C (NP-C) is a progressive neur

36 Niemann-Pick disease type C (NP-C) is an autosomal reces

37 ol trafficking as well as siRNA knockdown of Niemann-Pick disease type C (NPC) 1 and NPC2 also cause

38 Niemann-Pick disease type C (NPC) and Wolman disease are

39 orage, including cholesterol accumulation in Niemann-Pick disease type C (NPC) cells.

40 Niemann-Pick disease type C (NPC) is a fatal, autosomal

41 Niemann-Pick disease type C (NPC) is a genetic disorder

42 Niemann-Pick disease type C (NPC) is a lysosomal storage

43 Niemann-Pick disease type C (NPC) is a neurodegenerative

44 Niemann-Pick disease type C (NPC) is a severe neurovisce

45 Niemann-Pick disease type C (NPC) is associated with mut

46 Niemann-Pick disease type C (NPC) is caused by defects i

47 Niemann-Pick disease type C (NPC) is caused by mutations

48 Niemann-Pick disease type C (NPC) is characterized by ly

49 ndosomes and lysosomes of cells derived from Niemann-Pick disease type C (NPC) patients and demonstra

50 the sphingolipid storage diseases, includes Niemann-Pick disease type C (NPC), caused predominantly

51 in the genes encoding these proteins lead to Niemann-Pick disease type C (NPC).

52 ssociated disorders such as Tangier disease, Niemann-Pick disease type C and atherosclerosis.

53 has therapeutic effects in animal models of Niemann-Pick disease type C and several other neurodegen

54 sine transport deficiency in patient-derived Niemann-Pick disease type C fibroblasts by fluorescence

55 lated by the late endosomal membrane protein Niemann-Pick disease type C protein 1 (NPC1) arising dur

56 iction for phenylketonuria and miglustat for Niemann-Pick disease type C.

57 plasma membranes isolated from wild-type and Niemann-Pick disease type C1 (NPC1) deficient cells.

58 ity between Juno and the cholesterol-binding Niemann-Pick disease type C1 protein (NPC1) suggests how

59 LDL and was coimmunoprecipitated with NPC1 (Niemann-Pick disease type C1), an endocytic regulator of

60 s substantially reduced in cells depleted of Niemann-Pick disease type C1, a lysosomal protein requir

61 Niemann-Pick disease type C2 (NP-C2) is a fatal heredita

62 Niemann-Pick disease, type C1 (NPC1) is a heritable lyso

63 Niemann-Pick disease, type C1 (NPC1) is a lysosomal stor

64 Niemann-Pick disease, type C1 (NPC1), which arises from

65 SM deficiency (ASMD) and have been linked to Niemann-Pick disease types A and B.

66 matic leucodystrophy, mucolipidosis type IV, Niemann-Pick disease (types A, B, and C), and sphingolip

67 -65 years; mean age, 23.3 years) with type B Niemann-Pick disease was evaluated with imaging and pulm

68 fibroblasts from patients with types A and B Niemann-Pick disease, which are known to lack lysosomal

69 ic histology and ultrastructural features of Niemann-Pick disease, with confirmatory findings in bioc