ライフサイエンスコーパス: plakophilin

1 ions in one of these dual function proteins, plakophilin 1 (band-6 protein; refs 8-10).

2 Desmoplakin (DP), plakoglobin (PG), and plakophilin 1 (PP1) are desmosomal components lacking a

3 der repertoire of desmosomal components than plakophilin 1 and provide new insight into the possible

4 showed negative immunolabeling with an anti-plakophilin 1 antibody and small desmosomes.

5 codons of translation on both alleles of the plakophilin 1 gene (PKP1).

6 Among the three known plakophilin members, plakophilin 1 has been linked to a genetic skin disorder

7 his patient attest to the dual importance of plakophilin 1 in both cutaneous cell-call adhesion and e

8 dition, plakophilin 2 is less efficient than plakophilin 1 in localizing to the nucleus and enhancing

9 has a complete absence of immunostaining for plakophilin 1 in the skin and is a compound heterozygote

10 We report a new plakophilin 1 mutation in an affected patient as well as

11 These results expand the database of plakophilin 1 mutations and demonstrate the importance o

12 (MIM 604536), that results from mutations in plakophilin 1, a structural component of desmosomes.

13 akoglobin, the plakin domain of desmoplakin, plakophilin 1, and the cytoplasmic domain of desmocollin

14 n desmosomal plaque proteins plakoglobin and plakophilin 1, is integrated into functional desmosomes.

15 otein p120ctn and to the desmosomal proteins plakophilins 1-3.

16 Plakophilin-1 (PKP-1) is an armadillo family protein cri

17 stal structure of the arm repeat domain from plakophilin-1 (PKP1), a member of the p120ctn subfamily

18 s, but is unable to recruit normal levels of plakophilin-1 and desmoplakin to the plaque.

19 ure the strength of cell-cell contacts, both plakophilin-1 and p120ctn were found to increase the str

20 s that epidermal lesions in patients lacking plakophilin-1 are a consequence of the loss of integrity

21 no acids 686-726 in the carboxyl terminus of plakophilin-1 are required for its localization to the p

22 t mediated by the armadillo repeat domain of plakophilin-1 but by the non-armadillo head domain, as a

23 tween the cadherins and desmoplakin, whereas plakophilin-1 enhances lateral interactions between desm

24 In transient expression assays, plakophilin-1 formed complexes with a desmoplakin amino-

25 ell line, we sought to determine the role of plakophilin-1 in de novo desmosome assembly.

26 To define the function of plakophilin-1 in desmosome assembly, interactions among

27 Loss of plakophilin-1 is the underlying cause of ectodermal dysp

28 Thus, it has been suggested that plakophilin-1 plays an important role in desmosome stabi

29 When exogenous plakophilin-1 was expressed in these cells, desmosomes w

30 ons, the interaction between desmoplakin and plakophilin-1 was not mediated by the armadillo repeat d

31 Signal for the desmosomal protein plakophilin-1 was reduced in buccal mucosa cells in pati

32 the armadillo family members plakoglobin and plakophilin-1 were examined.

33 sphorylation of a desmosome component, PKP1 (plakophilin-1) by RIPK4 (receptor-interacting serine-thr

34 of a desmosomal cytoplasmic plaque protein, plakophilin-1, protects keratinocytes from PV IgG-induce

35 ns necessary to assemble a desmosome, except plakophilin-1.

36 tion protein p120 and the desmosomal protein plakophilin-1.

37 ed with the absence of a functional gene for plakophilin-1.

38 substrate phosphorylation data, we identify plakophilin 2 (PKP2) as a novel C-TAK1 substrate.

39 tions in desmosomal adhesion complex protein plakophilin 2 (PKP2) cause arrhythmia due to loss of cel

40 Plakophilin 2 (PKP2), a desmosome component, modulates t

41 Plakophilin 2 (PKP2), an armadillo family member closely

42 Plakophilin 2 (PKP2), an influenza PB1-interacting prote

43 esmosomal proteins desmoplakin, plakoglobin, plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocoll

44 PKP2, encoding plakophilin 2 (PKP2), is the most common causal gene for

45 n a manner distinct from the closely related plakophilin 2 (Pkp2).

46 Here we show that plakophilin 2 can interact directly with several desmoso

47 ovide new insight into the possible roles of plakophilin 2 in regulating the signaling activity of be

48 rough its head domain, and the expression of plakophilin 2 in SW480 cells up-regulates the endogenous

49 Our results demonstrate that plakophilin 2 interacts with a broader repertoire of des

50 coalescence of DP and the armadillo protein plakophilin 2 into discrete cytoplasmic particles after

51 Furthermore, plakophilin 2 is able to associate with beta-catenin thr

52 This up-regulation by plakophilin 2 is abolished by ectopic expression of E-ca

53 The head domain of plakophilin 2 is critical for most of these interactions

54 In addition, plakophilin 2 is less efficient than plakophilin 1 in lo

55 ese interactions and is sufficient to direct plakophilin 2 to cell borders.

56 ARVD/C-associated pathogenic mutations (83% plakophilin 2) without prior sustained ventricular arrhy

57 tional plakoglobin (JUP), Desmoplakin (DSP), Plakophilin 2, and Desmoglein 2), have been identified i

58 omal proteins, including desmoglein 1 and 2, plakophilin 2, and plakoglobin.

59 better understand the cellular functions of plakophilin 2, we have examined its protein interactions

60 nctions of the most widely expressed member, plakophilin 2.

61 ssociation closest to the PKP2 gene encoding plakophilin 2.

62 al gene mutation in desmoplakin (n=44; 39%), plakophilin-2 (n=38; 34%), desmoglein-2 (n=30; 26%), and

63 omics experiments identified plakoglobin and plakophilin-2 (PKP2) as putative K(ATP) channel-associat

64 Namely, plakophilin-2 (PKP2) associates with the epidermal growt

65 Five carried a deletion of the entire plakophilin-2 (PKP2) gene, 2 a deletion of only PKP2 exo

66 We identified 21 variants in plakophilin-2 (PKP2) in 38 of 198 probands (19%), includ

67 hat loss of the desmosomal armadillo protein Plakophilin-2 (PKP2) in cardiomyocytes elevates transfor

68 Plakophilin-2 (PKP2) is a component of the desmosome and

69 Here, we report that cytoplasmic protein plakophilin-2 (PKP2) is a novel positive regulator of EG

70 were obtained from 2 patients with ARVC with plakophilin-2 (PKP2) mutations, reprogrammed to generate

71 ructurally interacts with desmosomal protein plakophilin-2 (PKP2), basal ES proteins N-cadherin and b

72 omponents of the cardiac desmosome including plakophilin-2 (PKP2), the most prevalent disease gene.

73 used by mutations in the desmosomal gene for plakophilin-2 (PKP2), which is expressed in both myocard

74 ankyrin-G loss results in reorganization of plakophilin-2 and lethal arrhythmias in response to beta

75 ein connexin 43 (Cx43) and desmosome protein plakophilin-2 are working synergistically to modulate th

76 ew evidence that mutations in the desmosomal plakophilin-2 gene can cause ARVC.

77 icted to cause a premature truncation of the plakophilin-2 protein.

78 Regulation of AnkG and of Na(v)1.5 by Plakophilin-2 was also demonstrated.

79 In a recent report, mutations in plakophilin-2, a gene highly expressed in cardiac desmos

80 ing to assess the interactions between AnkG, Plakophilin-2, and Connexin43.

81 Mutations in PKP2, the gene encoding plakophilin-2, are found in 11% to 43% of ARVD/C proband

82 ons in PKP2, encoding the desmosomal protein plakophilin-2, associated with ARVD/C.

83 e mutations, most commonly in PKP2, encoding plakophilin-2.

84 00 white patients with ARVC for mutations in plakophilin-2.

85 n PKP2, which encodes the desmosomal protein plakophilin-2.

86 l predisposition (72% mutation carriers [92% plakophilin-2]; 28% first-degree relatives of a mutation

87 Here we show that the Armadillo protein plakophilin 3 (Pkp3) mediates both desmosome assembly an

88 We identified plakophilin-4 (p0071) as a potential novel folliculin in

89 (DSP) (n = 6), desmoglein-2 (DSG2) (n = 5), plakophilin-4 (PKP4) (n = 1), and desmocollin-2 (DSC2) (

90 h Scribble and the target proteins beta-PIX, plakophilin-4, and guanylate cyclase soluble subunit alp

91 Plakophilin and desmoplakin mutations have been discover

92 plasma membrane, followed by recruitment of plakophilin and desmoplakin to the plaque, and ending wi

93 DSCR ligands, strongly with plakoglobin and plakophilin and more weakly with desmoplakin and desmoco

94 Plakophilins are a subfamily of p120-related arm-repeat

95 Plakophilins are armadillo repeat-containing proteins, i

96 These results suggest that p120ctn/plakophilin family proteins interact with intercellular

97 mocolin A/B, desmoplakin I, plakoglobin, and plakophilin), indicating that desmosomes become cross-li

98 Among the three known plakophilin members, plakophilin 1 has been linked to a

99 adherin) and eight components of desmosomes (plakophilin (PKP) 1 and 2, desmoplakin, plakoglobin--whi

100 Here, we asked whether the presence of plakophilin (PKP)2, a component of the desmosome, is ess

101 Plakophilins (Pkp-1, -2, and -3) comprise a family of ar

102 Plakophilins (PKPs) are armadillo family members related

103 that the cadherin-associated protein neural plakophilin-related arm protein (NPRAP; also called delt