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1 beta-catenin (plakoglobin) and p120 catenin (plakophilins).
2 ions in one of these dual function proteins, plakophilin 1 (band-6 protein; refs 8-10).
3      Desmoplakin (DP), plakoglobin (PG), and plakophilin 1 (PP1) are desmosomal components lacking a
4 der repertoire of desmosomal components than plakophilin 1 and provide new insight into the possible
5  showed negative immunolabeling with an anti-plakophilin 1 antibody and small desmosomes.
6 codons of translation on both alleles of the plakophilin 1 gene (PKP1).
7   Among the three known plakophilin members, plakophilin 1 has been linked to a genetic skin disorder
8 his patient attest to the dual importance of plakophilin 1 in both cutaneous cell-call adhesion and e
9 dition, plakophilin 2 is less efficient than plakophilin 1 in localizing to the nucleus and enhancing
10 has a complete absence of immunostaining for plakophilin 1 in the skin and is a compound heterozygote
11                              We report a new plakophilin 1 mutation in an affected patient as well as
12         These results expand the database of plakophilin 1 mutations and demonstrate the importance o
13 (MIM 604536), that results from mutations in plakophilin 1, a structural component of desmosomes.
14 akoglobin, the plakin domain of desmoplakin, plakophilin 1, and the cytoplasmic domain of desmocollin
15 n desmosomal plaque proteins plakoglobin and plakophilin 1, is integrated into functional desmosomes.
16 otein p120ctn and to the desmosomal proteins plakophilins 1-3.
17                                              Plakophilin-1 (PKP-1) is an armadillo family protein cri
18 stal structure of the arm repeat domain from plakophilin-1 (PKP1), a member of the p120ctn subfamily
19 s, but is unable to recruit normal levels of plakophilin-1 and desmoplakin to the plaque.
20 ure the strength of cell-cell contacts, both plakophilin-1 and p120ctn were found to increase the str
21 s that epidermal lesions in patients lacking plakophilin-1 are a consequence of the loss of integrity
22 no acids 686-726 in the carboxyl terminus of plakophilin-1 are required for its localization to the p
23 t mediated by the armadillo repeat domain of plakophilin-1 but by the non-armadillo head domain, as a
24 tween the cadherins and desmoplakin, whereas plakophilin-1 enhances lateral interactions between desm
25              In transient expression assays, plakophilin-1 formed complexes with a desmoplakin amino-
26 ell line, we sought to determine the role of plakophilin-1 in de novo desmosome assembly.
27                    To define the function of plakophilin-1 in desmosome assembly, interactions among
28                                      Loss of plakophilin-1 is the underlying cause of ectodermal dysp
29             Thus, it has been suggested that plakophilin-1 plays an important role in desmosome stabi
30                               When exogenous plakophilin-1 was expressed in these cells, desmosomes w
31 ons, the interaction between desmoplakin and plakophilin-1 was not mediated by the armadillo repeat d
32            Signal for the desmosomal protein plakophilin-1 was reduced in buccal mucosa cells in pati
33 the armadillo family members plakoglobin and plakophilin-1 were examined.
34 sphorylation of a desmosome component, PKP1 (plakophilin-1) by RIPK4 (receptor-interacting serine-thr
35  of a desmosomal cytoplasmic plaque protein, plakophilin-1, protects keratinocytes from PV IgG-induce
36 ns necessary to assemble a desmosome, except plakophilin-1.
37 tion protein p120 and the desmosomal protein plakophilin-1.
38 ed with the absence of a functional gene for plakophilin-1.
39  substrate phosphorylation data, we identify plakophilin 2 (PKP2) as a novel C-TAK1 substrate.
40 tions in desmosomal adhesion complex protein plakophilin 2 (PKP2) cause arrhythmia due to loss of cel
41 SP mutations and 81 patients with pathogenic plakophilin 2 (PKP2) mutations as a comparison cohort.
42                                              Plakophilin 2 (PKP2), a desmosome component, modulates t
43                                              Plakophilin 2 (PKP2), an armadillo family member closely
44                                              Plakophilin 2 (PKP2), an influenza PB1-interacting prote
45 esmosomal proteins desmoplakin, plakoglobin, plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocoll
46                               PKP2, encoding plakophilin 2 (PKP2), is the most common causal gene for
47 n a manner distinct from the closely related plakophilin 2 (Pkp2).
48                            Here we show that plakophilin 2 can interact directly with several desmoso
49 ovide new insight into the possible roles of plakophilin 2 in regulating the signaling activity of be
50 rough its head domain, and the expression of plakophilin 2 in SW480 cells up-regulates the endogenous
51                 Our results demonstrate that plakophilin 2 interacts with a broader repertoire of des
52  coalescence of DP and the armadillo protein plakophilin 2 into discrete cytoplasmic particles after
53                                 Furthermore, plakophilin 2 is able to associate with beta-catenin thr
54                        This up-regulation by plakophilin 2 is abolished by ectopic expression of E-ca
55                           The head domain of plakophilin 2 is critical for most of these interactions
56                                 In addition, plakophilin 2 is less efficient than plakophilin 1 in lo
57 ese interactions and is sufficient to direct plakophilin 2 to cell borders.
58 o effectively reduced Ca(2+) leak in a PKP2 (plakophilin 2) p.His773AlafsX8 iPSC-CM model of ACM.
59  ARVD/C-associated pathogenic mutations (83% plakophilin 2) without prior sustained ventricular arrhy
60 tional plakoglobin (JUP), Desmoplakin (DSP), Plakophilin 2, and Desmoglein 2), have been identified i
61 omal proteins, including desmoglein 1 and 2, plakophilin 2, and plakoglobin.
62  better understand the cellular functions of plakophilin 2, we have examined its protein interactions
63 ssociation closest to the PKP2 gene encoding plakophilin 2.
64 nctions of the most widely expressed member, plakophilin 2.
65 al gene mutation in desmoplakin (n=44; 39%), plakophilin-2 (n=38; 34%), desmoglein-2 (n=30; 26%), and
66 omics experiments identified plakoglobin and plakophilin-2 (PKP2) as putative K(ATP) channel-associat
67                                      Namely, plakophilin-2 (PKP2) associates with the epidermal growt
68        Five carried a deletion of the entire plakophilin-2 (PKP2) gene, 2 a deletion of only PKP2 exo
69                 We identified 21 variants in plakophilin-2 (PKP2) in 38 of 198 probands (19%), includ
70 hat loss of the desmosomal armadillo protein Plakophilin-2 (PKP2) in cardiomyocytes elevates transfor
71                                              Plakophilin-2 (PKP2) is a component of the desmosome and
72     Here, we report that cytoplasmic protein plakophilin-2 (PKP2) is a novel positive regulator of EG
73 were obtained from 2 patients with ARVC with plakophilin-2 (PKP2) mutations, reprogrammed to generate
74 t ventricular cardiomyopathy correlated with plakophilin-2 (PKP2) mutations.
75                                  Variants in plakophilin-2 (PKP2) were shown to reclassify less frequ
76 ructurally interacts with desmosomal protein plakophilin-2 (PKP2), basal ES proteins N-cadherin and b
77 omponents of the cardiac desmosome including plakophilin-2 (PKP2), the most prevalent disease gene.
78 used by mutations in the desmosomal gene for plakophilin-2 (PKP2), which is expressed in both myocard
79   We aimed to develop a safe, evidence-based plakophilin-2 (PKP2)-specific longitudinal screening alg
80 y pathogenic variants in the desmosomal gene plakophilin-2 (PKP2).
81 ations in desmosomal genes, predominantly in plakophilin-2 (PKP2).
82 o pathogenic variants in the desmosomal gene plakophilin-2 (PKP2).
83 tudy of 16 ARVC patients with two genotypes: plakophilin-2 (PKP2, n = 8) and gene-elusive (GE, n = 8)
84 d by endurance training in mice deficient in plakophilin-2 (PKP2cKO), a desmosomal protein important
85 e observed decreases in desmosomal proteins, plakophilin-2 and desmoglein-2, which have been reported
86  ankyrin-G loss results in reorganization of plakophilin-2 and lethal arrhythmias in response to beta
87 ein connexin 43 (Cx43) and desmosome protein plakophilin-2 are working synergistically to modulate th
88 ew evidence that mutations in the desmosomal plakophilin-2 gene can cause ARVC.
89                   In summary, we show that a plakophilin-2 mutation can lead to decreased desmosomal
90 icted to cause a premature truncation of the plakophilin-2 protein.
91 d pluripotent stem cells (iPSCs) that harbor plakophilin-2 truncating variants (PKP2tv), the most pre
92        Regulation of AnkG and of Na(v)1.5 by Plakophilin-2 was also demonstrated.
93                 Pathogenic variants in PKP2 (plakophilin-2) cause arrhythmogenic right ventricular ca
94 isorder of desmosomal dysfunction, and PKP2 (plakophilin-2) has been reported to be the most common d
95  (the gene coding for the desmosomal protein plakophilin-2), as well, is discussed in more detail.
96 e PKP2 gene, which encodes the PKP2 protein (plakophilin-2).
97             In a recent report, mutations in plakophilin-2, a gene highly expressed in cardiac desmos
98 ing to assess the interactions between AnkG, Plakophilin-2, and Connexin43.
99 in PKP2, the gene for the desmosomal protein plakophilin-2, are being enrolled in gene therapy trials
100         Mutations in PKP2, the gene encoding plakophilin-2, are found in 11% to 43% of ARVD/C proband
101 ons in PKP2, encoding the desmosomal protein plakophilin-2, associated with ARVD/C.
102 n PKP2, which encodes the desmosomal protein plakophilin-2.
103 e mutations, most commonly in PKP2, encoding plakophilin-2.
104 00 white patients with ARVC for mutations in plakophilin-2.
105 l predisposition (72% mutation carriers [92% plakophilin-2]; 28% first-degree relatives of a mutation
106      Here we show that the Armadillo protein plakophilin 3 (Pkp3) mediates both desmosome assembly an
107 tonin (DST), junction plakoglobin (JUP), and plakophilin-3 (PKP3), and are involved in cell-cell adhe
108                                We identified plakophilin-4 (p0071) as a potential novel folliculin in
109  (DSP) (n = 6), desmoglein-2 (DSG2) (n = 5), plakophilin-4 (PKP4) (n = 1), and desmocollin-2 (DSC2) (
110 h Scribble and the target proteins beta-PIX, plakophilin-4, and guanylate cyclase soluble subunit alp
111                                              Plakophilin and desmoplakin mutations have been discover
112  plasma membrane, followed by recruitment of plakophilin and desmoplakin to the plaque, and ending wi
113  DSCR ligands, strongly with plakoglobin and plakophilin and more weakly with desmoplakin and desmoco
114                                              Plakophilins are a subfamily of p120-related arm-repeat
115                                              Plakophilins are armadillo repeat-containing proteins, i
116           These results suggest that p120ctn/plakophilin family proteins interact with intercellular
117 mocolin A/B, desmoplakin I, plakoglobin, and plakophilin), indicating that desmosomes become cross-li
118                        Among the three known plakophilin members, plakophilin 1 has been linked to a
119 adherin) and eight components of desmosomes (plakophilin (PKP) 1 and 2, desmoplakin, plakoglobin--whi
120       Here, we asked whether the presence of plakophilin (PKP)2, a component of the desmosome, is ess
121                                              Plakophilins (Pkp-1, -2, and -3) comprise a family of ar
122                                              Plakophilins (PKPs) are armadillo family members related
123 stigated the roles of desmoglein (Dsg) 3 and plakophilins (Pkps) in hyperadhesion.
124  that the cadherin-associated protein neural plakophilin-related arm protein (NPRAP; also called delt

 
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