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TY - JOUR. T1 - Molecular structure of the human desmoplakin I and II amino terminus. AU - Virata, Maria Luisa A. AU - Wagner, Rita M.. AU - Parry, David A D. AU - Green, Kathleen J.. PY - 1992/1/1. Y1 - 1992/1/1. N2 - Desmoplakins (DPs) I and II are closely related proteins found in the innermost region of the desmosomal plaque, which serves as a cell surface attachment site for cytoplasmic intermediate filaments. Overlapping cDNA clones comprising 9.2 kilobases of DP-I, predicted to encode a full-length 310-kDa polypeptide (2677 amino acid residues), have now been identified. Here we report the predicted protein sequence and structural analysis of the N terminus of DP, extending our previous study of the rod and carboxyl domains. The N terminus contains groups of heptad repeats that are predicted to form at least two major α-helical-rich bundles. Unlike the rod and carboxyl domains, the N terminus did not display a periodic distribution of charged residues. Northern blot mapping and genomic ...

Define Desmoplakin. Desmoplakin synonyms, Desmoplakin pronunciation, Desmoplakin translation, English dictionary definition of Desmoplakin. abbr. Latin decessit sine prole abbreviation for decessit sine prole

References for Abcams Human Desmoplakin I+II peptide (ab71689). Please let us know if you have used this product in your publication

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The anti-desmoplakin 1 & 2 is a mouse IgG1 immunoglobulin. It is purified by affinity chromatography. The antigen is bovine desmoplakins 1 & 2.

By tethering the intermediate filament (IF) cytoskeleton to the plasma membrane, the desmosome plaque component desmoplakin (DP) strengthens adhesion mediated b...

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The desmosomal plaque protein desmoplakin (DP), located at the juncture between the intermediate filament (IF) network and the cytoplasmic tails of the transmembrane desmosomal cadherins, has been proposed to link IF to the desmosomal plaque. Consistent with this hypothesis, previous studies of individual DP domains indicated that the DP COOH terminus associates with IF networks whereas NH2-terminal sequences govern the association of DP with the desmosomal plaque. Nevertheless, it had not yet been demonstrated that DP is required for attaching IF to the desmosome. To test this proposal directly, we generated A431 cell lines stably expressing DP NH2-terminal polypeptides, which were expected to compete with endogenous DP during desmosome assembly. As these polypeptides lacked the COOH-terminal IF-binding domain, this competition should result in the loss of IF anchorage if DP is required for linking IF to the desmosomal plaque. In such cells, a 70-kD DP NH2-terminal polypeptide (DP-NTP) ...

Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS). Desmoplakin is part of all desmosomes, which are abundantly expressed in both myocardial and epidermal tissue and serve as intercellular mechanical junctions. This study aimed to investigate protein expression in myocardial and epidermal tissue of ARVC and CS patients carrying DSP mutations in order to elucidate potential molecular disease mechanisms. Genetic investigations identified three ARVC patients carrying different heterozygous DSP mutations in addition to a homozygous DSP mutation in a CS patient. The protein expression of DSP in mutation carriers was evaluated in biopsies from myocardial and epidermal tissue by immunohistochemistry. Keratinocyte cultures were established from skin biopsies of mutation carriers and characterized by reverse transcriptase polymerase chain reaction, western blotting, and protein mass spectrometry. The results showed that ...

Desmoplakin I: [§§] (a protein found in the desmosomes of all epithelia) locus: 6p24, is a member of the plakin family of IF-binding proteins (intermediate filament (IF)) located in the desmosomal plaque, sufficient to cause entry of E2F/DP heterodimer in DRTF1**(TFDP1-transcription factor Dp-1)/E2F quiescent cells to enter S phase in the G1 to S transition.…

The desmosome is a highly specialized cell-cell junctional complex responsible for strong mechanical adhesion between cells, a characteristic required for normal tissue structure and resistance to mechanical stress. In addition, a growing body of evidence suggests that desmosomal proteins control many other fundamental biological processes such as cell proliferation, differentiation and migration. Therefore, it is not surprising that expression of protein members of the desmosome complex are altered in many different types of cancer. Loss of desmosome-mediated adhesion has been linked to tumorigenic phenotypes such as increased proliferation and migratory ability. The current proposal will investigate the role played by the desmosomal protein Desmoplakin (DP) in coordinating cell migration. Our preliminary evidence indicates that loss of DP (via siRNA-mediated knockdown) results in an increase in motility of human skin cancer cells. We hypothesize that DP coordinates the migratory properties of ...

Desmosomes are intercellular adhering junctions characteristic of epithelial cells. Several constitutive proteins--desmoplakin, plakoglobin and the transmembrane glycoproteins desmoglein and desmocollin--have been identified as fundamental constituents of desmosomes in all tissues. A number of additional and cell type-specific constituents also contribute to desmosomal plaque formation. Among these proteins is the band 6 polypeptide (B6P). This positively charged, non-glycosylated protein is a major constituent of the plaque in stratified and complex glandular epithelia. Using an overlay assay we show that purified keratins bind in vitro to B6P. Thus B6P may play a role in ordering intermediate filament networks of adjacent epithelial cells. To characterize the structure of B6P in the desmosome we have isolated cDNA clones representing the entire coding sequence. The predicted amino acid sequence of human B6P shows strong sequence homology with a murine p120 protein, which is a substrate of ...

Hatzfeld, M., Green, K.J., and Sauter, H. (2003). Targeting of p0071 to desmosomes and adherens junctions is mediated by different protein domains. J Cell Sci 116, 1219-1233. 2002 Jaulin-Bastard, F., Arsanto, J.P., Le Bivic, A., Navarro, C., Vely, F., Saito, H., Marchetto, S., Hatzfeld, M., Santoni, M.J., Birnbaum, D., and Borg, J.P. (2002). Interaction between Erbin and a Catenin-related Protein in Epithelial Cells. J Biol Chem 277, 2869-2875. 2001 Bornslaeger, E.A., Godsel, L.M., Corcoran, C.M., Park, J.K., Hatzfeld, M., Kowalczyk, A.P., and Green, K.J. (2001). Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. J Cell Sci 114, 727-738. 2000 Hatzfeld, M., C. Haffner, K. Schulze, and U. Vinzens. (2000). The function of plakophilin 1 in desmosome assembly and actin filament organization. J. Cell Biol. 149. 1999 Kowalczyk, A.P., Hatzfeld, M., Bornslaeger, E.A., Kopp, D.S., ...

Background Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To date, only 3 families have been reported. Objective We studied a new case of SAM syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic, immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular mechanisms in this rare genodermatosis. Methods Histopathologic, electron microscopy, and immunofluorescent studies were performed. Whole-exome sequencing data were interrogated for mutations in desmosomal and other skin structural genes, followed by Sanger sequencing of candidate genes in the patient and his parents. Results No mutations were identified in DSG1; however, a novel de novo heterozygous missense c.1757A,C mutation in the desmoplakin gene (DSP) was identified in the patient, predicting the amino acid substitution p.His586Pro in the desmoplakin polypeptide. ...

catenin complex, cell-cell adherens junction, desmosome, nucleus, atrioventricular valve morphogenesis, cell adhesion, heart development, negative regulation of Wnt signaling pathway, negative regulation of Wnt signaling pathway involved in heart development

Desmosome model showing interactions between selected molecular components of simple and stratified epithelia (modified after Nollet et al., 2000). (a) Some rep

Desmoyokin is a protein that in humans is encoded by the AHNAK gene. AHNAK was originally identified in 1989 (in bovine muzzle epidermal cells) and named desmoyokin due to its localization pattern (that resembled a yoke) in the desmosomal plaque. AHNAK has been shown to be essential for pseudopod protrusion and cell migration.

Complete information for JUP gene (Protein Coding), Junction Plakoglobin, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

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Cadherin has an intimate spatial relationship with actin filaments (AF) in various types of cells, forming the cell-to-cell adherens junction (AJ). We compared the AJ/AF relationship between non-polarized fibroblasts (NRK cells) and polarized epithelial cells (MTD-1A cells). E/P-cadherin, alpha-catenin, ZO-1 and vinculin were localized with reference to AF in these cells using laser scan microscopy as well as conventional light and electron microscopy. NRK cells adhered to each other at the tips of thin cellular processes, where spot-like AJ were formed, where P-cadherin, alpha-catenin, ZO-1 and vinculin were concentrated. Some stress-fiber-like AF bundles ran axially in these processes and terminated at spot-like AJ on their tips. At the electron microscopic level these spot-like AJ were seen as aggregates of small units of AJ, where AF were densely and perpendicularly associated with the plasma membrane. In MTD-1A cells, the AJ/AF relationship was investigated during the cell polarization ...

Here, we isolated a novel F-actin-binding protein with a molecular mass of ∼205 kD (p205). This protein was copurified with another protein with a molecular mass of 190 kD (p190) that lacked the F-actin-binding activity on various column chromatographies. The molecular cloning of the cDNAs of these two proteins revealed that the nucleotide sequence of the p190 cDNA was identical to that of the p205 cDNA, except for the two splicing regions. FISH analysis revealed that the genes of these two proteins were localized at the same locus. These results suggest that p205 and p190 are splicing variants derived from the same gene. Because a computer homology search revealed that the aa sequence of p190 was almost identical to that of human AF-6 protein, we theorize that p190 may be a rat counterpart of human AF-6 protein. We named p205 and p190 l- and s-afadins, respectively. Further purification steps of l-afadin, including Mono S column and Superdex 200 column chromatographies, did not separate l- ...

4709 Plakoglobin (γ-catenin) and β-catenin are pivotal components of cell-cell adherent junctions, linking cadherin receptors to the actin cytoskeleton. Unlike β-catenin overexpression, which is implicated in proliferation and tumor formation, high levels of plakoglobin suppress cell growth and tumorigenicity, whereas reduction of plakoglobin expression was found in highly invasive and metastatic tumors. We studied the expression of β-catenin and plakoglobin in 5 alveolar (ARMS) and 4 embryonal (ERMS) rhabdomyosarcoma (RMS) cell lines and 11 RMS tumor biopsies, 4 ARMS carrying the translocation t(2;13)(q35;q14), 2 ARMS without translocation and 3 ERMS. We found a consistent and homogeneous β-catenin expression in all of the cell lines and tumors tested, while plakoglobin, detectable in ERMS, was absent or almost undetectable in ARMS. These findings were confirmed by semi-quantitative RT-PCR assay at the RNA level. Immunocytochemical analysis of RMS cell lines showed membrane and cytoplasmic ...

The importance of reactive nitrogen species in atherosclerosis remains poorly understood, despite the semi-quantitative evidence for the presence of 3-nitrotyrosine provided by immunohistochemical staining studies. At this time, there appear to be no data describing the prevalence of nitration relative to oxidation in atherosclerotic plaque proteins. The present study used 3-nitrotyrosine and dityrosine as markers of nitration and oxidation respectively to examine the relative abundance of each process. Substantial methodological improvements were required to overcome problems associated with sensitivity and artefactual production of 3-nitrotyrosine when quantified by GLC-MS. It was shown that careful selection of hydrolysis vessel, sample reduction and the use of the oxazolinone derivative provided sample stability and exquisite sensitivity. Using these methods, it was observed that the frequency of nitration was 92±15μmol/mol of tyrosine (0.01%). Dityrosine was present at 1.5±0.14mmol/mol ...

The structure of the desmoplakin linker domain (in the C terminal end) has been resolved by NMR spectroscopy, exhibiting an unprecedented fold that contains a pair of regular and irregular subdomains and whose monomeric state has been confirmed by SAXS. The desmoplakin plakin domain (in the N terminal end) immobilisation on a surface of graphite decorated with size-selected gold clusters (with 55 and 147 atoms) was studied by tapping mode AFM, which provided evidence of enhanced weak adsorption of the protein to the clusters ...

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.. J Invest Dermatol. 2010 Nov;130(11):2680-3. Authors: Hobbs RP, Han SY, van der Zwaag PA, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ. PMID: 20613772 [PubMed - indexed for MEDLINE]. ...

Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity).

Plakoglobin interacts with both classical and desmosomal cadherins. It is closely related to Drosophila aramadillo (arm) gene product; arm acts in the wingless (wg)-signaling pathway to establish segment polarity. In Xenopus, homologs of wg--i.e., wnts, can produce anterior axis duplications by inducing dorsal mesoderm. Studies in Drosophila suggest that wnt acts by increasing the level of cytoplasmic armadillo protein (arm). To test whether simply increasing the level of plakoglobin mimics the effects of exogenous wnts in Xenopus, we injected fertilized eggs with RNA encoding an epitope-tagged form of plakoglobin; this induced both early radial gastrulation and anterior axis duplication. Exogenous plakoglobin accumulates in the nuclei of embryonic cells. Plakoglobin binds to the tail domain of the desmosomal cadherin desmoglein 1. When RNA encoding the tail domain of desmoglein was coinjected with plakoglobin RNA, both the dorsalizing effect and nuclear accumulation of plakoglobin were ...

Desmoglein 2 (Dsg2) is a Ca(2+)-dependent adhesion molecule of desmosomes and is synthesized in all desmosome-bearing tissues from their earliest appearance onward. To examine the function of Dsg2, its gene was inactivated by homologous recombination in embryonal stem (ES) cells for the generation of knockout mice. DSG2 -/- mice and a considerable number of DSG2 +/- mice died at or shortly after implantation. On the other hand, DSG2 -/- blastocysts developed an apparently normal trophectoderm layer, the first tissue known to produce desmosomes, and hatched properly. Immunofluorescence analyses of these blastocysts showed, however, that the distribution of the desmosomal plaque protein desmoplakin was disturbed, whereas the adherens junction proteins E-cadherin and beta-catenin appeared to be unaffected. Unexpectedly, we found that Dsg2 seems to be essential for the inner cell mass and the ES cell population derived there from. We present evidence that Dsg2, which is located in desmoplakin-negative wild

To date, much of the work on desmosomes in human disease has focused on their role in maintaining heart and skin integrity, where desmosomal defects are associated with cardiomyopathy and skin blistering conditions respectively [23]. More recently, a potential role for desmosomes in cancer progression has been suggested based on a variety of experimental clues [24]. For example, in vitro cell culture assays demonstrated that inhibiting desmosomal adhesion via blocking peptides caused morphological disorganization [25] while introduction of desmosomal components into a nonadhesive cell line resulted in increased cell aggregation and reduced cellular invasion in vitro [26]. These studies suggested that loss of desmosomal function might contribute to tumor invasion and malignancy, consistent with their role in maintaining cellular adhesion. (Our attempts to perform similar in vitro experiments using cell lines derived from RT2 tumors [βTCs] were hindered by the fact that βTC cell lines express ...

Generation of this architectural and functional diversity is a complex process comprising cell type-specific transcription and/or splicing of the components combined with selective transport of mRNAs and even site-specific translation. These events must be interconnected and regulated tightly, and several proteins are known that are involved in either one or several of these steps. A cross-talk between cytoskeletal components of adhesive junctions and gene transcription has been demonstrated for β-catenin (Ben Zeev and Geiger, 1998), actin (Scheer et al., 1984; Gonsior et al., 1999; Rando et al., 2000), zyxin (Nix and Beckerle, 1997), and the desmosomal plaque proteins plakophilin-1a and -1b (Schmidt et al., 1997), plakophilin-2 (Mertens et al., 2001), and plakophilin-3 (Bonne et al., 1999; Schmidt et al., 1999). Differential RNA splicing resulting in junctional diversity may be executed by protein components of the heterogeneous nuclear RNPs (hnRNPs)* like the polypyrimidine tract binding ...

This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015 ...

Intermediate filaments support a cell by attaching to desmosomes, cell-cell adhesion junctions at the cell membrane. Desmoplakin is not only required to attach filaments to the desmosome but it also maintains desmosomal stability (Gallicano et al., 1998). Desmoplakin mutants die at E6.5 because unstable desmosomes lead to a loss of integrity within extra-embryonic tissues (Gallicano et al., 2001; Gallicano et al., 1998). Normal localization of desmoplakin at the desmosome within K18-/-;K19-/- trophoblast cells (Hesse et al., 2000) suggests that, in the absence of keratin filaments, desmosomes remain relatively stable. By contrast, Mrj-deficient chorionic trophoblast cells showed a significant reduction of desmoplakin expression. As a result, desmosomes in Mrj-/- trophoblast cells may be unstable, resulting in disrupted chorionic organization. This implies further that keratin inclusion bodies disrupt cell function independently of keratin deficiency. Presumably, the reduction of K18 expression ...

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FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015 ...

FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015 ...

Structurally, cadherins are built of the following domains: a signal sequence, followed by a propeptide of about 130 residues, then an extracellular domain of around 600 residues, then a transmembrane region, and finally a C-terminal cytoplasmic domain of about 150 residues. The extracellular domain can be sub-divided into five parts: there are four repeats of about 110 residues followed by a region that contains four conserved cysteines. It is suggested that the calcium-binding region of cadherins is located in the extracellular repeats. Cadherins are evolutionary related to the desmogleins which are component of intercellular desmosome junctions involved in the interaction of plaque proteins: ...

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TY - JOUR. T1 - Arrhythmogenic right ventricular dysplasia/cardiomyopathy - Three decades of progress. AU - Calkins, Hugh. PY - 2015. Y1 - 2015. N2 - Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare, inherited cardiomyopathy characterized by ventricular arrhythmias, sudden cardiac death, and right ventricular dysfunction. Since the first major description of this disease, much has been learned about ARVD/C. One of the main breakthroughs was the discovery that mutations in desmosomal proteins are the most frequent genetic basis of ARVD/C. Today, genetic testing plays an important role in both the diagnosis of ARVD/C and cascade family screening. Much has also been learned concerning the optimal approaches to diagnosis. The 2010 Task Force Diagnostic criteria for ARVD/C represent the standard for diagnosis today. We have also learned much about the importance of proband status and the 24-h PVC count to assess sudden death risk, and the importance of exercise both in the ...

We read with interest the paper by Marcus et al. (1) published in the May 14, 2013 issue of the Journal. The authors brought to light the complex nature of clinical genetics in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. Overall, this paper provides an important review of the current state of clinical genetic testing for this rare condition. We applaud the authors for their confirmation of the Heart Rhythm Society/European Heart Rhythm Association guidelines (2) in recommending genetic counseling when ordering genetic testing in this and other cardiomyopathies.. The Johns Hopkins arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) program was established in 1999 with 3 goals: 1) to educate patients and physicians about ARVD/C; 2) to evaluate and manage patients with known or suspected ARVD/C; and 3) to contribute to the body of literature regarding this condition. The program has facilitated the clinical evaluation of over 1,140 patients and follows over 250 ...

Arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized histologically by fibro-fatty myocardial replacement of the RV and clinically by ventricular arrhythmias and RV dysfunction (1,2). Patients with ARVD/C typically present in their mid-teens to mid-forties with symptomatic ventricular tachycardia (VT) of a left bundle branch block morphology (3). Sudden cardiac death may be the first manifestation of the disease (3-5). Clinical diagnosis is based on diagnostic criteria proposed by the International Task Force of the European Society of Cardiology and International Society and Federation of Cardiology that take into account arrhythmic, electrocardiographic, structural, and histopathologic abnormalities, as well as family history (6).. Arrhythmogenic RV dysplasia/cardiomyopathy is a genetic disorder transmitted with reduced penetrance and variable expressivity. To date, 6 genes have been identified with mutations causing ARVD/C. Both ...

J. Peter van Tintelen, Mark M. Entius, Zahurul A. Bhuiyan, Roselie Jongbloed, Ans C.P. Wiesfeld, Arthur A.M. Wilde, Jasper van der Smagt, Ludolf G. Boven, Marcel M.A.M. Mannens, Irene M. van Langen, Robert M.W. Hofstra, Luuk C. Otterspoor, Pieter A.F.M. Doevendans, Luz-Maria Rodriguez, Isabelle C. van Gelder and Richard N.W. Hauer ...

|jats:p|Desmosomes are anchoring junctions that exist in cells that endure physical stress such as cardiac myocytes. The importance of desmosomes in maintaining the homeostasis of the myocardium is underscored by frequent mutations of desmosome components found in human patients and animal models. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a phenotype caused by mutations in desmosomal components in ∼50% of patients, however, the causes in the remaining 50% of patients still remain unknown. A deficiency of inhibitor of apoptosis-stimulating protein of p53 (iASPP), an evolutionarily conserved inhibitor of p53, caused by spontaneous mutation recently has been associated with a lethal autosomal recessive cardiomyopathy in Poll Hereford calves and Wa3 mice. However, the molecular mechanisms that mediate this putative function of iASPP are completely unknown. Here, we show that iASPP is expressed at intercalated discs in human and mouse postmitotic cardiomyocytes. iASPP interacts with

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder mainly caused by dominant mutations in several components of the cardiac desmosome including plakophilin-2 (PKP2) - the most prevalent disease gene. Little is known about the underlying genetic and molecular mechanisms of missense mutations located in the armadillo (ARM) domains of PKP2 as well as their consequences on human cardiac pathology. METHODS AND RESULTS: We focused on in vivo and in vitro studies of the PKP2 founder mutation c.2386T,C (p.C796R) and demonstrated in cardiac tissue from two related mutation carriers a patchy expression pattern ranging from unchanged to totally absent immunoreactive signals of PKP2 and other desmosomal proteins. In vitro expression analysis of mutant PKP2 in cardiac derived HL-1 cells revealed unstable proteins which fail to interact with desmoplakin and are targeted by degradation involving calpain proteases. Bacterial expression, crystallization and ...

Desmosomes are molecular complexes of cell adhesion proteins and linking proteins that attach the cell surface adhesion proteins to intracellularkeratin cytoskeletal filaments.. The cell adhesion proteins of the desmosome, desmoglein and desmocollin, are members of the cadherin family of cell adhesion molecules. They aretransmembrane proteins that bridge the space between adjacent epithelial cellsby way of homophilic binding of their extracellular domains to other desmosomal cadherins on the adjacent cell. Both have five extracellular domains, and have calcium-binding motifs.. The extracellular domain of the desmosome is called the Extracellular Core Domain (ECD) or the Desmoglea, and is bisected by an electron-dense midline where the desmoglein and desmocollin proteins bind to each other. These proteins can bind in a W, S, or λ manner.. On the cytoplasmic side of the plasma membrane, there are two dense structures called the Outer Dense Plaque (ODP) and the Inner Dense Plaque (IDP). These are ...

Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy and is also called ARVD/C. In most cases, ARVD is inherited in an autosomal-dominant pattern and clinically is characterized by ventricular arrhythmias with an increased

What is Arrhythmogenic Right Ventricular Dysplasia Familial 12 ARVD12? FDNA Telehealths complete guide to rare disease causes, symptoms, testing, and diagnosis.

Arrhythmogenic Right Ventricular Dysplasia is when the muscle tissue in the right ventricle of the heart dies and is replaced with fat and/or fibrous tissue thus disrupting the electrical signals of the heart and causes arrhythmias. This is the forum for discussing anything related to this health condition

Variant summary: PKP2 c.14delG (p.Gly5AlafsX34) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Arg79X and p.Gln133X). The variant was absent in 30714 control chromosomes. c.14delG has been reported in the literature in one individual affected with Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Another clinical diagnostic laboratory has submitted assessment for this variant to ClinVar before 2014 without evidence ...

Cadherins are calcium-dependent, cell surface glycoproteins involved in cell-cell adhesion. To function in cell-cell adhesion, the transmembrane cadherin molecule must be associated with the cytoskeleton via cytoplasmic proteins known as catenins. Three catenins, alpha-catenin, beta-catenin, and gamma-catenin (also known as plakoglobin), have been identified. The domain of the cadherin molecule important for its interaction with the catenins has been mapped to the COOH-terminal 70 amino acids, but less is known about regions of the catenins that allow them to associate with one another or with the cadherin molecule. In this study we have transfected carboxyl-terminal deletions of plakoglobin into the human fibrosarcoma HT-1080 and used immunofluorescence localization and co-immunoprecipitation to map the regions of plakoglobin that allow it to associate with N-cadherin and with alpha-catenin. Plakoglobin is an armadillo family member containing 13 weakly similar internal repeats. These data show ...

Cadherins are calcium-dependent, cell surface glycoproteins involved in cell-cell adhesion. To function in cell-cell adhesion, the transmembrane cadherin molecule must be associated with the cytoskeleton via cytoplasmic proteins known as catenins. Three catenins, alpha-catenin, beta-catenin, and gamma-catenin (also known as plakoglobin), have been identified. The domain of the cadherin molecule important for its interaction with the catenins has been mapped to the COOH-terminal 70 amino acids, but less is known about regions of the catenins that allow them to associate with one another or with the cadherin molecule. In this study we have transfected carboxyl-terminal deletions of plakoglobin into the human fibrosarcoma HT-1080 and used immunofluorescence localization and co-immunoprecipitation to map the regions of plakoglobin that allow it to associate with N-cadherin and with alpha-catenin. Plakoglobin is an armadillo family member containing 13 weakly similar internal repeats. These data show ...

Cadherins are calcium-dependent, cell surface glycoproteins involved in cell-cell adhesion. To function in cell-cell adhesion, the transmembrane cadherin molecule must be associated with the cytoskeleton via cytoplasmic proteins known as catenins. Three catenins, alpha-catenin, beta-catenin, and gamma-catenin (also known as plakoglobin), have been identified. The domain of the cadherin molecule important for its interaction with the catenins has been mapped to the COOH-terminal 70 amino acids, but less is known about regions of the catenins that allow them to associate with one another or with the cadherin molecule. In this study we have transfected carboxyl-terminal deletions of plakoglobin into the human fibrosarcoma HT-1080 and used immunofluorescence localization and co-immunoprecipitation to map the regions of plakoglobin that allow it to associate with N-cadherin and with alpha-catenin. Plakoglobin is an armadillo family member containing 13 weakly similar internal repeats. These data show ...

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel of 14 genes is now available. For further information see Asper Cardiogenetics/ARVD. ...

and for the Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation ...

Synapses are fundamental building blocks of neural circuits. Synapse formation requires complex regulation involving cell adhesion molecules, secreted molecules, transcription factors and so forth. For cell adhesion molecules, ...

Inciardi R. M. 1, Maresi E. 2, Coppola G. 1, Rotolo A. 1, Clemenza F. 3, Giordano U. 4, Lombardo E. 5, Schicchi R. 6, Torcivia R. 7, Arrotti S. 1, Iacona R. 1, Minacapelli A. A. 1, Assennato P. 1, Novo S. 1 ✉ ...

Published on 8/22/2011. Asimaki A, Tandri H, Duffy ER, Winterfield JR, Mackey-Bojack S, Picken MM, Cooper LT, Wilber DJ, Marcus FI, Basso C, Thiene G, Tsatsopoulou A, Protonotarios N, Stevenson WG, McKenna WJ, Gautam S, Remick DG, Calkins H, Saffitz JE. Altered desmosomal proteins in granulomatous myocarditis and potential pathogenic links to arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2011 Oct; 4(5):743-52. PMID: 21859801.. Read at: PubMed ...

Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila armadillo gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants have been found for this gene, but the full-length nature of only two of them have been described so far. These two variants encode distinct isoforms.[7] ...

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Tight junctions (TJs), hallmark structures of one-layered epithelia and of endothelia, are of central biological importance as intramembranous fences and as hydrophobic barriers between lumina represented by liquid- or gas-filled spaces on the one hand and the mesenchymal space on the other. The …

Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Desmocollin 1 (DSC1) in samples from Tissue homogenates, cell lysates and other biological fluids with no significant corss-reactivity with analogues from other species ...

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