ライフサイエンスコーパス: Pick disease

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

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

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

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

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

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

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

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

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

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

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

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

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

14 Pick disease filaments contain 3R tau.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

42 Pick disease tau neuropathology may originate in limbic/

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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