ライフサイエンスコーパス: Pick disease

1 lycosphingolipids and cholesterol in Niemann-Pick disease).

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

3 subset of 4-repeat tau-containing lesions in Pick disease.

4 herited human disorder types A and B Niemann-Pick disease.

5 nctional and the levels of which increase in Pick disease.

6 ary function in patients with type B Niemann-Pick disease.

7 ck-out (ASMKO) mouse model of Type A Niemann-Pick disease.

8 ary cells derived from patients with Niemann-Pick disease.

9 O) mice are a model of types A and B Niemann-Pick disease.

10 (acid sphingomyelinase, deficient in Niemann-Pick disease A-B) was enhanced to all affected organs by

11 ferently affected brain regions in a case of Pick disease, a human neurodegenerative disorder.

12 bserved in ASM-deficient humans with Niemann-Pick disease, and ASM activity in healthy humans correla

13 rative diseases including Alzheimer disease, Pick disease, and progressive supranuclear palsy.

14 g Alzheimer's disease, tangle-only dementia, Pick disease, argyrophilic grain disease (AGD), progress

15 ude Alzheimer disease, tangle-only dementia, Pick disease, argyrophilic grain disease, chronic trauma

16 ng assisted reproduction options for Niemann-Pick disease carrier couples.

17 retion, but this was not observed in Niemann-Pick disease cells.

18 Pick disease filaments contain 3R tau.

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

20 Mutations in the Niemann-Pick disease genes cause lysosomal cholesterol accumulat

21 reatment of pulmonary involvement by Niemann-Pick disease has been documented.

22 gomyelinase (ASM)-deficient forms of Niemann-Pick disease (i.e. Types A and B NPD).

23 One form of Niemann-Pick disease is caused by a deficiency in the enzymatic

24 Niemann-Pick disease is caused by a genetic deficiency in acid s

25 both the neuronal and glial tau pathology of Pick disease, it detects only the neuronal pathology in

26 e-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G

27 neration [CBD], n = 10; FTLD-TDP, n = 3; and Pick disease, n = 1).

28 Types A and B Niemann-Pick disease (NPD) are inherited multisystem lysosomal s

29 The Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders due to th

30 The type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders due to th

31 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resul

32 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resul

33 Niemann-Pick disease (NPD) is a lysosomal storage disease caused

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

35 Types A and B Niemann-Pick disease (NPD) result from the deficient activity of

36 ciency (ASMD), historically known as Niemann-Pick disease (NPD) types A, A/B, and B, is a rare, progr

37 s of acid sphingomyelinase-deficient Niemann Pick disease (NPD), and postmortem LSD patients' brains,

38 nt in the lysosomal storage disorder Niemann-Pick disease (NPD).

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

40 SM activity results in Types A and B Niemann-Pick disease (NPD).

41 e sample of 394 patients with type B Niemann-Pick disease (NPD).

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

43 in the lipid storage disease type A Niemann-Pick disease (NPD-A), mimicked in mice by interruption o

44 Niemann-Pick disease, originally defined in terms of its histolo

45 ough studies using lymphoblasts from Niemann-Pick disease patients or acid sphingomyelinase (ASMase)-

46 hose lacking caveolins or those from Niemann-Pick disease patients.

47 SMKO mice could prevent or alter the Niemann-Pick disease phenotype.

48 (PSP), corticobasal degeneration (CBD), and Pick disease (PiD).

49 In Type B Niemann-Pick disease, progressive pulmonary infiltration is a ma

50 tau are prominent in Alzheimer disease (AD), Pick disease, progressive supranuclear palsy (PSP) and c

51 l tau in post-mortem human brain tissue from Pick disease, progressive supranuclear palsy, corticobas

52 at, a drug used to treat Gaucher and Niemann-Pick disease, suppresses astrocyte pathogenic activities

53 Pick disease tau neuropathology may originate in limbic/

54 ell lines derived from patients with Niemann-Pick disease that lack acidic sphingomyelinase activity.

55 duced in Progressive Supra-nuclear Palsy and Picks' disease, two distinct primary tauopathies.

56 s underlying microglia activation in Niemann-Pick disease type A (NPA).

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

58 phingomyelinase, which is mutated in Niemann Pick disease type A, and beta galactosidase-1, which is

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

60 s, neuronal 2, CLN2), Fabry, Farber, Niemann-Pick disease type A, Sanfilippo type B (mucopolysacchari

61 brain tissue, a mutation that causes Niemann-Pick disease type C (a neurodegenerative ataxia), slowin

62 Niemann-Pick disease Type C (NP-C) is a progressive neurodegener

63 Niemann-Pick disease type C (NP-C) is an autosomal recessive lip

64 icking as well as siRNA knockdown of Niemann-Pick disease type C (NPC) 1 and NPC2 also cause inhibiti

65 Niemann-Pick disease type C (NPC) and Wolman disease are two mem

66 ncluding cholesterol accumulation in Niemann-Pick disease type C (NPC) cells.

67 transport to the plasma membrane via Niemann-Pick disease type C (NPC) intracellular cholesterol tran

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

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

70 Niemann-Pick disease type C (NPC) is a genetic disorder in which

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

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

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

74 Niemann-Pick disease type C (NPC) is a rare, fatal, neurodegener

75 Niemann-Pick disease type C (NPC) is a severe neurovisceral lyso

76 Niemann-Pick Disease Type C (NPC) is an ultra-rare disorder char

77 Niemann-Pick disease type C (NPC) is associated with mutations i

78 Niemann-Pick disease type C (NPC) is caused by defects in either

79 Niemann-Pick disease type C (NPC) is caused by mutations in NPC1

80 Niemann-Pick disease type C (NPC) is characterized by lysosomal

81 and lysosomes of cells derived from Niemann-Pick disease type C (NPC) patients and demonstrate a gre

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

83 protein (NPC2) leads to the onset of Niemann-Pick Disease Type C (NPC), a lysosomal storage disorder.

84 ingolipid storage diseases, includes Niemann-Pick disease type C (NPC), caused predominantly (95%) by

85 s contribute to neurodegeneration in Niemann-Pick disease type C (NPC).

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

87 nt in the lysosomal storage disorder Niemann-Pick disease type C (NPC).

88 enes encoding these proteins lead to Niemann-Pick disease type C (NPC).

89 2, whose defects are responsible for Niemann-Pick disease type C (NPC).

90 d disorders such as Tangier disease, Niemann-Pick disease type C and atherosclerosis.

91 rapeutic effects in animal models of Niemann-Pick disease type C and several other neurodegenerative

92 nsport deficiency in patient-derived Niemann-Pick disease type C fibroblasts by fluorescence as well

93 or older with genetically confirmed Niemann-Pick disease type C in a 1:1 ratio to receive NALL for 1

94 Niemann-Pick disease type C is a rare lysosomal storage disorder

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

96 the late endosomal membrane protein Niemann-Pick disease type C protein 1 (NPC1) arising during earl

97 olesterol, and its deficiency causes Niemann-Pick disease Type C, an autosomal recessive lysosomal di

98 Among patients with Niemann-Pick disease type C, treatment with NALL for 12 weeks le

99 have analyzed the involvement of the Niemann-Pick disease type C-1a (NPC1a) protein, a cholesterol tr

100 ionalizes mutations in patients with Niemann-Pick disease type C.

101 rapeutic target for the treatment of Niemann-Pick disease type C.

102 ic dysfunction, for the treatment of Niemann-Pick disease type C.

103 or phenylketonuria and miglustat for Niemann-Pick disease type C.

104 fects of this agent in patients with Niemann-Pick disease type C.

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

106 ent on cholesterol transport through Niemann-Pick disease type C1 (NPC1) and mediates homeostatic and

107 re, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumu

108 embranes isolated from wild-type and Niemann-Pick disease type C1 (NPC1) deficient cells.

109 Niemann-Pick disease type C1 (NPC1) is a rare, prematurely fatal

110 activating protein (Scap), Patched, Niemann-Pick disease type C1 (NPC1), and related proteins, revea

111 tion in fibroblasts of patients with Niemann-Pick disease type C1 and significantly ameliorates disea

112 found that the cellular phenotype of Niemann-Pick disease type C1 is associated with a decreased pigm

113 een Juno and the cholesterol-binding Niemann-Pick disease type C1 protein (NPC1) suggests how the mod

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

115 ntially reduced in cells depleted of Niemann-Pick disease type C1, a lysosomal protein required for c

116 mutations in the NPC1 protein cause Niemann-Pick disease type C1, a lysosomal storage disorder chara

117 th in vitro and in vivo hallmarks of Niemann-Pick disease type C1, Batten disease, and mucolipidosis

118 y ameliorates disease pathologies in Niemann-Pick disease type C1-deficient mice, leading to an exten

119 Niemann-Pick disease type C2 (NP-C2) is a fatal hereditary disea

120 synthetase, beta-subunit), and NPC2 (Niemann-Pick disease type C2); and secondary to myeloid leukemia

121 Niemann-Pick disease, type C1 (NPC1) is a heritable lysosomal st

122 Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage diso

123 Niemann-Pick disease, type C1 (NPC1), which arises from a mutati

124 iency (ASMD) and have been linked to Niemann-Pick disease types A and B.

125 ucodystrophy, mucolipidosis type IV, Niemann-Pick disease (types A, B, and C), and sphingolipid-activ

126 s; mean age, 23.3 years) with type B Niemann-Pick disease was evaluated with imaging and pulmonary fu

127 was commonly associated with nfvPPA, whereas Pick disease was observed in a minority of subjects acro

128 sts from patients with types A and B Niemann-Pick disease, which are known to lack lysosomal SMase ac

129 logy and ultrastructural features of Niemann-Pick disease, with confirmatory findings in biochemical