ライフサイエンスコーパス: Niemann-Pick disease

1 small glycosphingolipids and cholesterol in Niemann-Pick disease).

2 sphingomyelinase, required for types A and B Niemann-Pick disease.

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

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

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

6 in primary cells derived from patients with Niemann-Pick disease.

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

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

9 e also observed in ASM-deficient humans with Niemann-Pick disease, and ASM activity in healthy humans

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

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

12 d UK, and in collaboration with the National Niemann-Pick Disease Foundation (US) and Niemann-Pick UK

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

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

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

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

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

18 se models of acid sphingomyelinase-deficient Niemann Pick disease (NPD), and postmortem LSD patients'

19 Types A and B Niemann-Pick disease (NPD) are inherited multisystem lys

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

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

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

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

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

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

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

27 ase deficiency (ASMD), historically known as Niemann-Pick disease (NPD) types A, A/B, and B, is a rar

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

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

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

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

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

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

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

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

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

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

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

39 Miglustat, a drug used to treat Gaucher and Niemann-Pick disease, suppresses astrocyte pathogenic ac

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

41 , acid sphingomyelinase, which is mutated in Niemann Pick disease type A, and beta galactosidase-1, w

42 echanisms underlying microglia activation in Niemann-Pick disease type A (NPA).

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

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

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

46 n mouse brain tissue, a mutation that causes Niemann-Pick disease type C (a neurodegenerative ataxia)

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

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

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

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

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

52 and its transport to the plasma membrane via Niemann-Pick disease type C (NPC) intracellular choleste

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

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

55 Niemann-Pick Disease Type C (NPC) is a genetic disorder

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

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

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

59 Niemann-Pick disease type C (NPC) is a rare, fatal, neur

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

61 Niemann-Pick Disease Type C (NPC) is an ultra-rare disor

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

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

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

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

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

67 Moreover, we propose that Niemann-Pick disease type C (NPC), a lysosomal storage d

68 orter 2 protein (NPC2) leads to the onset of Niemann-Pick Disease Type C (NPC), a lysosomal storage d

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

70 e effects contribute to neurodegeneration in Niemann-Pick disease type C (NPC).

71 deficient in the lysosomal storage disorder Niemann-Pick disease type C (NPC).

72 and NPC2, whose defects are responsible for Niemann-Pick disease type C (NPC).

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

74 s disease (AD), Lewy body dementia (LBD) and Niemann-Pick disease type C (NPC).

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

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

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

78 s of age or older with genetically confirmed Niemann-Pick disease type C in a 1:1 ratio to receive NA

79 Niemann-Pick disease type C is a rare lysosomal storage

80 Similar microglia phenotypes occur in a Niemann-Pick disease type C mouse model and patient.

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

82 ified cholesterol, and its deficiency causes Niemann-Pick disease Type C, an autosomal recessive lyso

83 Among patients with Niemann-Pick disease type C, treatment with NALL for 12

84 and, we have analyzed the involvement of the Niemann-Pick disease type C-1a (NPC1a) protein, a choles

85 es a therapeutic target for the treatment of Niemann-Pick disease type C.

86 metabolic dysfunction, for the treatment of Niemann-Pick disease type C.

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

88 -term effects of this agent in patients with Niemann-Pick disease type C.

89 that rationalizes mutations in patients with Niemann-Pick disease type C.

90 Niemann-Pick disease type C1 (NP-C1) is a rare lysosomal

91 s dependent on cholesterol transport through Niemann-Pick disease type C1 (NPC1) and mediates homeost

92 The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosoma

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

94 Niemann-Pick disease type C1 (NPC1) is a rare, premature

95 cleavage activating protein (Scap), Patched, Niemann-Pick disease type C1 (NPC1), and related protein

96 accumulation in fibroblasts of patients with Niemann-Pick disease type C1 and significantly ameliorat

97 del, we found that the cellular phenotype of Niemann-Pick disease type C1 is associated with a decrea

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

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

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

101 function mutations in the NPC1 protein cause Niemann-Pick disease type C1, a lysosomal storage disord

102 ts on both in vitro and in vivo hallmarks of Niemann-Pick disease type C1, Batten disease, and mucoli

103 ificantly ameliorates disease pathologies in Niemann-Pick disease type C1-deficient mice, leading to

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

105 ne-tRNA synthetase, beta-subunit), and NPC2 (Niemann-Pick disease type C2); and secondary to myeloid

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

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

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

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

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

111 -65 years; mean age, 23.3 years) with type B Niemann-Pick disease was evaluated with imaging and pulm

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

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