ライフサイエンスコーパス: desmoplakin

1 d formed complexes with both VE-cadherin and desmoplakin.

2 gesting that p0071 may couple VE-cadherin to desmoplakin.

3 he intermediate filament-associated protein, desmoplakin.

4 le colocalizes with beta-catenin rather than desmoplakin.

5 examined by immunofluorescence for pinin and desmoplakin.

6 port the first mutation in the gene encoding desmoplakin.

7 skeleton, presumably through plakoglobin and desmoplakin.

8 altered phosphorylated sites on keratins and desmoplakin.

9 d as a DPM1-dependent interaction partner of desmoplakin.

10 in response to RSV, including annexin A2 and desmoplakin.

11 internalization of Dsg3, desmocollin 3, and desmoplakin.

12 ediate filament cytoskeleton, linked through desmoplakin.

13 diate filaments through its association with desmoplakin.

14 urface in a complex with plakoglobin but not desmoplakin.

15 has been identified in the plakin domain of desmoplakin.

16 y genetic reduction of the desmosome protein Desmoplakin-1a, highlighting the role of ECM-dependent j

17 Desmoplakin, a constitutive component of the desmosomal

18 amounts of involucrin epitopes as well as of desmoplakin, a desmosomal structural protein.

19 sin forces induce a conformational change in desmoplakin, a key cytoplasmic desmosomal protein.

20 DSP encodes desmoplakin, a primary component of desmosomes, intercel

21 he microtubule network and the N terminus of desmoplakin, a region that is a pathogenic mutation hots

22 intermediate filaments and directs force to desmoplakin along the keratin network, plausibly convert

23 ssays, plakophilin-1 formed complexes with a desmoplakin amino-terminal domain and enhanced its recru

24 to the first 160 amino-terminal residues of desmoplakin and also interacted directly with plakoglobi

25 unstable proteins that fail to interact with desmoplakin and are targeted by degradation involving ca

26 es, we have assigned particular densities to desmoplakin and described their interaction with interme

27 iASPP interacts with desmoplakin and desmin in cardiomyocytes to maintain the

28 se data demonstrate that by interacting with desmoplakin and desmin, iASPP is an important regulator

29 oglobin and plakophilin and more weakly with desmoplakin and desmocollin 1.

30 hogenic mutations in the desmosomal proteins desmoplakin and desmoglein 1.

31 LV and is associated mostly with variants in desmoplakin and desmoglein-2 genes.

32 Genetic variants in desmosomal genes (desmoplakin and desmoglein-2) were identified in 12/25 o

33 ed localization of the desmosomal components desmoplakin and desmoglein-2, and led to cytoskeletal or

34 of epithelial specific genes E-cadherin and desmoplakin and induces the expression of the mesenchyma

35 sulting from a decrease in binding sites for desmoplakin and intermediate filaments at desmosomes.

36 esion because mutations in desmosomal genes, desmoplakin and plakoglobin, have been implicated in the

37 globin interactions, the interaction between desmoplakin and plakophilin-1 was not mediated by the ar

38 ized periplakin, and certain sera recognized desmoplakin and plectin, and, weakly, bullous pemphigoid

39 alsequestrin-2 protein levels, and increased desmoplakin and SORBS2 protein levels.

40 immunoprecipitation approaches we found that desmoplakin and talin2 mRNAs associate with FXR1 in a co

41 Fxr1 KO hearts exhibit an up-regulation of desmoplakin and talin2 proteins, which is accompanied by

42 ggest that buried ARVC mutations destabilize desmoplakin and thereby impair desmosome integrity under

43 requirements for direct interactions between desmoplakin and various IF types.

44 Homozygous DSP (desmoplakin) and JUP (junction protein plakoglobin) muta

45 kedly decreased localization of plakoglobin, desmoplakin, and connexin43 at intercalated discs in car

46 highlighted by the expression of E-cadherin, desmoplakin, and cytokeratins.

47 at desmosomes and had become cross-linked to desmoplakin, and in 5-d CEs, these three proteins had fo

48 he mechanical junction proteins plakoglobin, desmoplakin, and N-cadherin are also upregulated by puls

49 ce with antibodies to the desmosome protein, desmoplakin, and the adherens junction protein, vinculin

50 interactions among the desmosomal cadherins, desmoplakin, and the armadillo family members plakoglobi

51 G15 [interferon-stimulated gene 15 kd], DSP [Desmoplakin], and C1S [complement component 1s subcomple

52 It identifies dosage of desmoplakin as critical in maintaining epidermal integri

53 Kazrin colocalizes with periplakin and desmoplakin at desmosomes and with periplakin at the int

54 the intermediate filament-associated protein desmoplakin at the carboxyl terminus.

55 presence of markers for cell junction (ZO1, Desmoplakin), basement membrane assembly (Collagen 7, La

56 kin family of proteins, to which envoplakin, desmoplakin, bullous pemphigoid antigen 1, and plectin b

57 m a PV patient causes a decrease of Dsg3 and desmoplakin but not desmocollin (Dsc) 3 in the Triton-in

58 finding not only unveiled a new function for desmoplakin, but also provided the first opportunity to

59 Mutations in desmoplakin can result in devastating skin blistering di

60 location is dependent on the presence of the desmoplakin carboxy-terminal tail.

61 This report presents a pediatric case of desmoplakin cardiomyopathy, a distinct subtype of ALVC,

62 ve also characterized fully the 3'UTR of the desmoplakin cDNA.

63 Immunofluorescence for desmoplakin confirmed desmosome presence throughout all

64 ession of other ID proteins like N-cadherin, desmoplakin, connexin-43, and ZO-1 was significantly per

65 discs, with disturbed expression of desmin, desmoplakin, connexin43 and vinculin being evident.

66 Mutation screening of desmoplakin demonstrated compound heterozygosity for a n

67 cell adhesion via impaired redistribution of desmoplakin, desmoglein 3, desmocollin 3, and E-cadherin

68 keratinocytes impairs the trafficking of the desmoplakins, desmoglein, and desmocollin to the cell su

69 the ability to mediate the initial phase of desmoplakin (DP) accumulation at sites of cell-cell cont

70 Desmoplakin (DP) anchors the intermediate filament cytos

71 t that the desmosome-IF system integrated by desmoplakin (DP) facilitates active tension sensing at A

72 me precursors enriched in the plaque protein desmoplakin (DP) into newly forming desmosomes, in part

73 Desmoplakin (DP) is an integral part of desmosomes, wher

74 mplicated in making this IF connection, only desmoplakin (DP) is both exclusive to and ubiquitous amo

75 e intermediate filament (IF)-binding protein desmoplakin (DP) is essential for desmosome function and

76 portantly, we demonstrate that expression of Desmoplakin (DP) is lost upon PKP2 knockdown and that re

77 paper, we report that the desmosomal protein desmoplakin (DP) is not essential for cell adhesion in t

78 ted Tet-On A431 cells inducibly expressing a desmoplakin (DP) mutant lacking the rod and IF-binding d

79 termediate filaments, the desmosomal protein desmoplakin (DP) regulates microtubule reorganization in

80 Desmoplakin (DP) serves to anchor intermediate filaments

81 al modifications on the IF-anchoring protein desmoplakin (DP) that play an essential role in coordina

82 s, which interface with plakoglobin (PG) and desmoplakin (DP) to associate with the intermediate fila

83 e intermediate filament (IF)-binding protein desmoplakin (DP) to desmosomal cadherins.

84 te differentiation, E-cadherin localization, desmoplakin (DP) translocation, and ER Ca(2+) sequestrat

85 d-binding 1 (EB1) and the desmosomal protein desmoplakin (DP), and demonstrate that DP-EB1 interactio

86 H terminus of the desmosomal plaque protein, desmoplakin (DP), is required for the association of DP

87 The desmosomal plaque protein desmoplakin (DP), located at the juncture between the in

88 Desmoplakin (DP), plakoglobin (PG), and plakophilin 1 (P

89 myocyte cell lines expressing siRNA against desmoplakin (DP), responsible for human ARVC.

90 o a 60% reduction in border translocation of desmoplakin (DP), the desmosomal cytolinker protein nece

91 esmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation.

92 er essential intercellular adhesion protein, desmoplakin (DP).

93 centrosome and is recruited to desmosomes by desmoplakin (DP).

94 subjects with PKP2 variants (42%), including desmoplakin (DSP) (n = 6), desmoglein-2 (DSG2) (n = 5),

95 ed in four gene groups: PKP2 (n = 118, 21%); desmoplakin (DSP) (n = 79, 14%); other desmosomal (n = 5

96 Pathogenic variants in the desmoplakin (DSP) gene are associated with the developme

97 Pathogenic desmoplakin (DSP) gene variants are associated with the

98 TO-mediated m(6)A demethylation destabilizes desmoplakin (DSP) mRNA, mediated by the m(6)A reader FMR

99 atients with pathogenic or likely pathogenic desmoplakin (DSP) variants.

100 omal proteins (Junctional plakoglobin (JUP), Desmoplakin (DSP), Plakophilin 2, and Desmoglein 2), hav

101 Mutations in desmoplakin (DSP), the primary force transducer between

102 , OR 2.89 [2.56-3.26], p=1.12 x 10(-66)) and desmoplakin (DSP; rs2076295, OR 1.44 [1.35-1.54], p=7.81

103 Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmog

104 emonstrate an interaction between SERCA2 and desmoplakin during differentiation.

105 Intercellular junctions (desmoglein-1/3, desmoplakin, E-cadherin) and epithelial-to-mesenchymal t

106 rotein components, including cystatin alpha, desmoplakin, elafin, keratins, members of the small prol

107 95 is the functional variant regulating DSP (desmoplakin) expression in human bronchial epithelial ce

108 oricrin, and unknown proteins related to the desmoplakin family.

109 proteins include alpha tubulin, beta actin, desmoplakin, fibrillarin, nuclear lamin B1, nonmuscle my

110 ns interacted with Dsg1 and rely on Dsg1 and desmoplakin for robust cortical localization.

111 is significantly inhibited; in these cells, desmoplakin forms insoluble aggregates when extracted wi

112 on of PG, which was accompanied by a loss of desmoplakin from desmosomes and decreased adhesive stren

113 prevented the EGF receptor-dependent loss of desmoplakin from junctions, attenuating the effects of l

114 ion at the donor + 1 site of intron 7 of the desmoplakin gene (939 + 1 G > A; Genbank M77830).

115 erozygous missense c.1757A>C mutation in the desmoplakin gene (DSP) was identified in the patient, pr

116 terozygous C-->T transition in exon 4 of the desmoplakin gene and predicted a premature termination c

117 reaction the exon-intron organization of the desmoplakin gene to facilitate analysis of genomic DNA.

118 t recessive human mutation, 7901delG, in the desmoplakin gene which causes a generalized striate kera

119 portance to tissue integrity, we ablated the desmoplakin gene.

120 genic cardiomyopathy due to mutations in the desmoplakin gene.

121 uctures of the plakin domains of plectin and desmoplakin give insight into how different plakins migh

122 proteins, such as glutamines 495 and 496 to desmoplakin, glutamine 288 to keratins, and lysines 468,

123 SI region that is involved in the binding to desmoplakin, had no effect.

124 tational analyses therefore demonstrate that desmoplakin haploinsufficiency can be tolerated in some

125 In contrast, desmoplakin has a two-segment structure with a central f

126 The flexibility within desmoplakin has been revealed by small-angle X-ray scatt

127 gene encoding the desmosomal plaque protein, desmoplakin, has been described in a patient with autoso

128 Recently, mutations in desmoplakin have been shown to underlie some cases of th

129 in(s) that bind the amino-terminal domain of desmoplakin have not been identified.

130 76 revealed that cadherins, plakoglobin, and desmoplakin have significantly reduced exchange in and o

131 DSP, a gene encoding the desmosomal protein desmoplakin, have been increasingly implicated in myocar

132 he intermediate filament-associated proteins desmoplakin I (DPI) and plectin.

133 re identified (desmoglein 3, desmocolin A/B, desmoplakin I, plakoglobin, and plakophilin), indicating

134 andomly distributed around the cell surface, desmoplakins I/II accumulate intracellularly, and the ti

135 In addition, while both ZO-1 and desmoplakin-I in control cells were shown to become asso

136 ters Dsg3 with the desmosomal plaque protein desmoplakin in a manner dependent on the plakoglobin-bin

137 oncomitantly deleting the desmosomal protein desmoplakin in cardiac myocyte lineages using the Cre-Lo

138 basis for understanding the critical role of desmoplakin in desmosome function.

139 These results identify a role for desmoplakin in organizing the desmosomal cadherin-plakog

140 This study demonstrates the importance of desmoplakin in the attachment of intermediate filaments

141 ates the relevance of haploinsufficiency for desmoplakin in the pathogenesis of this genodermatosis.

142 on was paralleled by an increase in Dsg2 and desmoplakin in the Triton-insoluble cell fraction, sugge

143 evealed that VE-cadherin colocalization with desmoplakin in transfected COS cells required p0071, sug

144 scopy and immunofluorescence localization of desmoplakin, into punctate structures.

145 Desmoplakin is a cytoplasmic desmosomal protein that pla

146 Desmoplakin is a desmosomal component that plays a criti

147 Our findings establish that desmoplakin is mechanosensitive and its structural state

148 This suggests that the tail domain of desmoplakin is not required for establishing tissue arch

149 sease keratinocytes, only the trafficking of desmoplakin is significantly inhibited; in these cells,

150 diac-specific loss of the desmosomal protein desmoplakin is sufficient to cause nuclear translocation

151 osome consists of several proteins, of which desmoplakin is the most abundant.

152 the expression of a cell-cell contact gene, Desmoplakin, is greatly reduced in Norbin-deletion mice.

153 ize and contain a dramatic redistribution of desmoplakin, keratin 5, and chromogranin A proteins.

154 d of cells with elongated morphology and low desmoplakin levels, suggesting a role in morphogenetic c

155 velopment or homeostasis, and periplakin and desmoplakin localization was normal.

156 epidermal differentiation complex on 1q, the desmoplakin locus on 6p, the type I and II keratin gene

157 In contrast to null DESMOPLAKIN: mice which die in early development, the tr

158 Desmoplakin molecules are more extended in wild type tha

159 ilin-1 enhances lateral interactions between desmoplakin molecules.

160 of enhanced keratin association, we used the desmoplakin mutant S2849G, which conferred reduced prote

161 ARVC-derived desmoplakin mutants DSP-1-V30M and DSP-1-S299R exhibit w

162 We now report a further case of a desmoplakin mutation in a proband with striate palmoplan

163 Plakophilin and desmoplakin mutations have been discovered to alter bind

164 The desmoplakin N-terminal region is a 1056-amino-acid seque

165 carried a single desmosomal gene mutation in desmoplakin (n=44; 39%), plakophilin-2 (n=38; 34%), desm

166 f these embryos revealed a critical role for desmoplakin not only in anchoring IFs to desmosomes, but

167 d for specific subtypes of DCM, such as DSP (desmoplakin) or FLNC (filamin-C) cardiomyopathy but over

168 l keratins show elevated, PKC-alpha-mediated desmoplakin phosphorylation and subsequent destabilizati

169 Mechanistically, SERPINB5 reduced desmoplakin phosphorylation at serine 176, which was req

170 rP(c) knockdown cells; levels of E-cadherin, desmoplakin, plakoglobin, claudin-4, occludin, zonula oc

171 ith several desmosomal components, including desmoplakin, plakoglobin, desmoglein 1 and 2, and desmoc

172 DSG2 and DSC2, encoding desmosomal proteins desmoplakin, plakoglobin, plakophilin 2 (PKP2), desmogle

173 ts of desmosomes (plakophilin (PKP) 1 and 2, desmoplakin, plakoglobin--which is also present in adher

174 In contrast to desmoplakin-plakoglobin interactions, the interaction be

175 tions with plakoglobin, the plakin domain of desmoplakin, plakophilin 1, and the cytoplasmic domain o

176 previous findings that both VE-cadherin and desmoplakin play central roles in vasculogenesis, these

177 The constitutive desmosomal plaque protein desmoplakin plays a vital part in keratinocyte adhesion

178 ere revealed by the abnormal organization of desmoplakin, plectin, N-cadherin, and connexin-43.

179 owever, in the presence of an amino-terminal desmoplakin polypeptide (DP-NTP), the desmosomal cadheri

180 e amino acid substitution p.His586Pro in the desmoplakin polypeptide.

181 FAPs expressed desmosome proteins, including desmoplakin, predominantly in the adipogenic but not fib

182 premature stop codon leading to a truncated desmoplakin protein missing the C domain of the tail reg

183 change in the distribution of pinin, whereas desmoplakin remained cell boundary-associated.

184 Herein we elucidate the architecture of desmoplakin's plakin domain, as well as its constituent

185 ECM remodeling genes include desmoplakin, SPARCL1, biglycan, and PECAM.

186 Patients from the multi-national DSP-ERADOS (Desmoplakin SPecific Effort for a RAre Disease Outcome S

187 mal plaque, and the amino-terminal domain of desmoplakin targets desmoplakin to the desmosome.

188 to the plakin family of proteins and include desmoplakin, the 230 kDa bullous pemphigoid antigen, and

189 n between DSMs and IFs using mutant forms of desmoplakin, the protein bridging these structures.

190 n interact with the amino-terminal domain of desmoplakin, these proteins were co-expressed in L-cell

191 leus and enhancing the recruitment of excess desmoplakin to cell borders in transiently transfected C

192 osomal plaque components, in which they link desmoplakin to the desmosomal cadherins.

193 amino-terminal domain of desmoplakin targets desmoplakin to the desmosome.

194 were necessary for subsequent recruitment of desmoplakin to the membrane and desmosome assembly.

195 , followed by recruitment of plakophilin and desmoplakin to the plaque, and ending with anchoring of

196 o recruit normal levels of plakophilin-1 and desmoplakin to the plaque.

197 eting point of three different subdomains of desmoplakin: two spectrin repeats and a Src homology 3 d

198 We also show that desmoplakin undergoes a similar actomyosin force-depende

199 In contrast to VE-cadherin, desmoplakin was found to associate with the non-armadill

200 from both affected individuals revealed that desmoplakin was not just located at the cell periphery b

201 Signal for the desmosomal protein desmoplakin was reduced in buccal mucosa cells from pati

202 delay in sorting of the desmosomal protein, desmoplakin, was observed in the presence of TG.

203 serves as a linker between the cadherins and desmoplakin, whereas plakophilin-1 enhances lateral inte