ライフサイエンスコーパス: presenilin-2

1 less promoters (e.g. Nr4a3, Presenilin-1 and Presenilin-2).

2 eta42) but has no effect on presenilin 1 and presenilin 2.

3 d precursor protein, presenilin-1 (PS1), and presenilin 2.

4 e expression of mutant presenilin 1 (PS1) or presenilin 2.

5 p65, ICE, IGF-II and FGF-7, MMP2, MMP14, and presenilin 2.

6 ypically carry mutations in presenilin-1 and presenilin-2.

7 ursor protein (APP), presenilin-1 (PS1), and presenilin-2.

8 re likely to have the same N141I mutation in presenilin 2 (54 genotyped confirmed).

9 Mutations in genes encoding presenilin 1 and presenilin 2 account for the majority of cases of early-

10 neuroblastoma cell line containing familial presenilin-2 AD mutation.

11 cursor protein processing enzymes (BACE1 and presenilin 2) and are accompanied by elevated Abeta pept

12 Presenilin 1 and presenilin 2 are polytopic membrane proteins, whose gene

13 Mutations in presenilin 2 are rare causes of early onset familial Alz

14 We conclude that mutations in presenilin 2 are rare with only seven being well documen

15 In addition, C-terminal fragments of presenilin-2 are specifically cross-linked.

16 a multisubunit complex with presenilin 1 and presenilin 2 as central components.

17 ploinsufficiency as pathogenic mechanisms in presenilin 2 associated Alzheimer's disease.

18 imaging and a novel 2 base pair deletion in presenilin 2 at nucleotide 342/343, predicted to produce

19 leavage of the carboxyl-terminal fragment of presenilin-2 by caspase-3.

20 sor protein gene, the presenilin 1 gene, the presenilin 2 gene, and the apolipoprotein E gene, but do

21 Mutations in the presenilin 1 (PS1) and presenilin 2 genes cosegregate with the majority of earl

22 The presenilin 1 and presenilin 2 genes have been identified as pathogenic lo

23 amyloid precursor protein, presenilin-1, and presenilin-2 genes).

24 amyloid precursor protein, presenilin-1, and presenilin-2 genes.

25 er's disease gene products, presenilin-1 and presenilin-2, have been reported to be functionally invo

26 -amyloid precursor protein, presenilin-1 and presenilin-2; however, the molecular basis of >99% of AD

27 etion of the genes encoding presenilin-1 and presenilin-2 in bone, is associated with late-onset, age

28 loop peptide (PS2-LP, amino acids 308-329 in presenilin-2) is generated through cleavage of the carbo

29 Extending this correlation, we find that Presenilin-2 localizes to basal bodies/cilia through a c

30 cells undergoing apoptosis, a 22-amino-acid presenilin-2-loop peptide (PS2-LP, amino acids 308-329 i

31 N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds.

32 r's disease linked to chromosome 1 who had a presenilin-2 mutation (N141I).

33 The index case with the presenilin-2 mutation had late-onset dementia at age 73

34 Eighteen presenilin 2 mutations have been reported, although not

35 Seven presenilin 2 mutations reported in the literature have s

36 and reviewed the world's literature on other presenilin 2 mutations; presenting a novel mutation that

37 s (Aph-1, Pen-2, nicastrin, presenilin-1, or presenilin-2) of the gamma-secretase in HEK293 cells.

38 e associated with mutations in presenilin 1, presenilin 2, or the amyloid precursor protein.

39 kinases Fnk/Snk and the Alzheimer's disease presenilin 2 protein.

40 s presenilin genes encoding presenilin-1 and presenilin-2 (PS1 and PS2) are linked to early-onset Alz

41 Mutations in presenilin-1 and presenilin-2 (PS1 and PS2) are the most common cause of

42 To determine whether the presenilin 1 (PS1), presenilin 2 (PS2) and amyloid beta-protein precursor (A

43 cursor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2) are known to cause early-onset, autos

44 hese two novel genes, presenilin 1 (PS1) and presenilin 2 (PS2) are members of an evolutionarily cons

45 Presenilin 1 (PS1) and presenilin 2 (PS2) are polytopic membrane proteins that

46 Presenilin-1 (PS1) and presenilin 2 (PS2) are proposed to be transmembrane aspa

47 Mutations in the presenilin 1 (PS1) and presenilin 2 (PS2) genes can cause Alzheimer's disease i

48 Mutations in the presenilin 1 (PS1) and presenilin 2 (PS2) genes cause the most common and aggre

49 Mutations in the presenilin 1 (PS1) and presenilin 2 (PS2) genes increase the production of the

50 ursor protein (APP), presenilin 1 (PS1), and presenilin 2 (PS2) genes.

51 hown to interact with presenilin 1 (PS1) and presenilin 2 (PS2) holoproteins.

52 ion of the familial Alzheimer's disease gene Presenilin 2 (PS2) in nerve growth factor-differentiated

53 Missense mutations in presenilin 1 (PS1) and presenilin 2 (PS2) proteins are a major cause of familia

54 Presenilin 2 (PS2) shares substantial sequence and possi

55 tion of the large hydrophilic loop region of presenilin 2 (PS2) with sorcin, a penta-EF-hand Ca(2+)-b

56 n complexes containing presenilin 1 (PS1) or presenilin 2 (PS2), aph-1a or aph-1b, nicastrin, and pen

57 ated proteins, termed presenilin 1 (PS1) and presenilin 2 (PS2), are linked to the majority of cases

58 related genes, termed presenilin 1 (PS1) and presenilin 2 (PS2), cause dementia in a subset of early-

59 ral membrane proteins: presenilin 1 (PS1) or presenilin 2 (PS2), nicastrin, Pen-2, and Aph-1.

60 he C terminus of presenilin 1 (PS1), but not presenilin 2 (PS2).

61 calmyrin, that interacts preferentially with presenilin 2 (PS2).

62 highly related genes presenilin 1 (PS1) and presenilin 2 (PS2).

63 id precursor protein, presenilin 1 (PS1) and presenilin 2 (PS2).

64 (PS1-CTF) but not with the endogenous CTF of presenilin 2 (PS2-CTF) in H4 human neuroglioma cells.

65 by which mutations in presenilin-1 (PS1) and presenilin-2 (PS2) result in the Alzheimer's disease phe

66 ased in cells expressing presenilin-1 (PS1), presenilin-2 (PS2), an Alzheimer's disease-associated mi

67 Presenilin-1 (PS1) and presenilin-2 (PS2), the major genes of familial Alzheime

68 ursor protein (APP), presenilin-1 (PS1), and presenilin-2 (PS2), which, when mutated, can cause famil

69 aused by mutations in presenilin-1 (PS1) and presenilin-2 (PS2).

70 sed most commonly by presenilin 1 (PSEN1) or presenilin 2 (PSEN2) mutations, a discovery that has gre

71 lular Abeta40 were abolished by depletion of presenilin 2 (PSEN2), recently shown to be enriched on t

72 When this motif is mutated, a GFP-tagged Presenilin-2 still localizes to intercellular borders, b

73 gamma-secretase components presenilin-1 and presenilin-2 that cause familial early-onset AD.