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Desmoplakin

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https://www.readbyqxmd.com/read/29202574/effect-of-biostimulation-on-oral-fibroblast-a-pilot-study
#1
A Palmieri, A Avantaggiato, F Cura, R Papalia, M Casale, F Bressi, L Scapoli
Bio-stimulation is a technique in aesthetic medicine in which different drugs such as nucleotides, antioxidants and glucosaminoglycans precursors are injected in the dermis to improving the anabolic function of dermal fibroblasts, i.e., protein synthesis, replication and production of extracellular matrix components. It can be achieved with multiple intra-dermal injections, using two protocols: 1) Polydeoxyribonucleotide (PDRN) plus glucosamine sulphate (Gluc); 2) N-acetylcysteine (NAC) and amino acids (Aa) (named Bio- NAC procedure)...
December 4, 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29178656/unique-genetic-background-and-outcome-of-non-caucasian-japanese-probands-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#2
Yuko Wada, Seiko Ohno, Takeshi Aiba, Minoru Horie
BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESULTS: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29152726/autoantibodies-to-full-body-vascular-cell-junctions-colocalize-with-myzap-arvcf-desmoplakins-i-and-ii-and-p0071-in-endemic-pemphigus-in-colombia-south-america
#3
Ana M Abreu Velez, Hong Yi, Gunnar Warfvinge, Michael S Howard
BACKGROUND: We previously described a new variant of endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre-EPF). METHODS: Here we aimed to investigate disease autoreactivity to vessels in all body organs/systems. We compared 57 patients and 57 controls from the endemic area, matched by demographics, age, sex, and work activity. We performed immunofluorescence, immunohistochemistry, confocal microscopy, immunoblotting, indirect immune electron microscopy studies, and autometallographic studies...
November 20, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29121734/desmoplakin-highlights-on-a-left-ventricular-arrhythmogenic-disorder
#4
EDITORIAL
Adalena Tsatsopoulou
No abstract text is available yet for this article.
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29066275/the-spectrum-of-manifestations-in-dsp-desmoplakin-sr6-domain-mutations-immunophenotyping-and-response-to-ustekinumab
#5
Amy S Paller, Tali Czarnowicki, Yael Renert-Yuval, Kristen Holland, Thy Huynh, Muriel Sadlier, Maeve A McAleer, Gary Tran, Gabrielle C Geddes, Alan D Irvine, Emma Guttman-Yassky
BACKGROUND: The immune abnormalities underlying the ichthyoses are poorly understood. OBJECTIVE: To determine the immunophenotype of an ichthyosis resulting from mutations in the spectrin repeat 6 (SR6) domain of DSP, the gene encoding desmoplakin, and to target therapy based on the molecular pathogenesis. METHODS: Immunophenotyping was performed using the blood and skin of a girl with SR6 region DSP mutations causing erythroderma/ichthyosis and cardiomyopathy...
October 21, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29066090/genetic-variants-associated-with-susceptibility-to-idiopathic-pulmonary-fibrosis-in-people-of-european-ancestry-a-genome-wide-association-study
#6
Richard J Allen, Joanne Porte, Rebecca Braybrooke, Carlos Flores, Tasha E Fingerlin, Justin M Oldham, Beatriz Guillen-Guio, Shwu-Fan Ma, Tsukasa Okamoto, Alison E John, Ma'en Obeidat, Ivana V Yang, Amanda Henry, Richard B Hubbard, Vidya Navaratnam, Gauri Saini, Norma Thompson, Helen L Booth, Simon P Hart, Mike R Hill, Nik Hirani, Toby M Maher, Robin J McAnulty, Ann B Millar, Philip L Molyneaux, Helen Parfrey, Doris M Rassl, Moira K B Whyte, William A Fahy, Richard P Marshall, Eunice Oballa, Yohan Bossé, David C Nickle, Don D Sin, Wim Timens, Nick Shrine, Ian Sayers, Ian P Hall, Imre Noth, David A Schwartz, Martin D Tobin, Louise V Wain, R Gisli Jenkins
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a chronic progressive lung disease with high mortality, uncertain cause, and few treatment options. Studies have identified a significant genetic risk associated with the development of IPF; however, mechanisms by which genetic risk factors promote IPF remain unclear. We aimed to identify genetic variants associated with IPF susceptibility and provide mechanistic insight using gene and protein expression analyses. METHODS: We used a two-stage approach: a genome-wide association study in patients with IPF of European ancestry recruited from nine different centres in the UK and controls selected from UK Biobank (stage 1) matched for age, sex, and smoking status; and a follow-up of associated genetic variants in independent datasets of patients with IPF and controls from two independent US samples from the Chicago consortium and the Colorado consortium (stage 2)...
November 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29034528/patients-with-a-new-variant-of-endemic-pemphigus-foliaceus-have-autoantibodies-against-arrector-pili-muscle-colocalizing-with-myzap-p0071-desmoplakins-1-and-2-and-arvcf
#7
A M Abreu-Velez, C A Valencia-Yepes, Y A Upegui-Zapata, E Upegui-Quiceno, N R Mesa-Herrera, J E Velazquez-Velez, M S Howard
BACKGROUND: We identified a new variant of endemic pemphigus foliaceus in El Bagre, Colombia, South America, which we term El Bagre-EPF, and observed reactivity to arrector pili muscle (APM), thus we tested for autoimmunity to APM. METHODS: We took skin biopsies from 30 patients with El Bagre-EPF and 30 healthy controls (HCs) matched by age, sex and occupation, who were all from the endemic area, and tested these using direct immunofluorescence (DIF), confocal microscopy, immunohistochemistry and immunoblotting (IB)...
October 15, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29018034/a-distinct-cellular-basis-for-early-cardiac-arrhythmias-the-cardinal-manifestation-of-arrhythmogenic-cardiomyopathy-and-the-skin-phenotype-of-cardiocutaneous-syndromes
#8
Jennifer Karmouch, Qiong Q Zhou, Christina Y Miyake, Raffaella Lombardi, Kai Kretzschmar, Marie Bannier-Hélaouët, Hans Clevers, Xander H Wehrens, James T Willerson, Ali J Marian
Rationale: Arrhythmogenic cardiomyopathy (ACM) is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP (desmoplakin) and JUP (plakoglobin) mutations are responsible for a subset of ACM patients that exhibit cardiac arrhythmias and dysfunction, palmo-planter keratosis, and hair abnormalities (cardiocutaneous syndromes). Objective: To determine phenotypic consequences of deletion of Dsp in a subset of cells common to the heart and skin...
October 10, 2017: Circulation Research
https://www.readbyqxmd.com/read/28934278/intercalated-disc-in-failing-hearts-from-patients-with-dilated-cardiomyopathy-its-role-in-the-depressed-left-ventricular-function
#9
Ana Ortega, Estefanía Tarazón, Carolina Gil-Cayuela, María García-Manzanares, Luis Martínez-Dolz, Francisca Lago, José Ramón González-Juanatey, Juan Cinca, Esther Jorge, Manuel Portolés, Esther Roselló-Lletí, Miguel Rivera
Alterations in myocardial structure and reduced cardiomyocyte adhesions have been previously described in dilated cardiomyopathy (DCM). We studied the transcriptome of cell adhesion molecules in these patients and their relationships with left ventricular (LV) function decay. We also visualized the intercalated disc (ID) structure and organization. The transcriptomic profile of 23 explanted LV samples was analyzed using RNA-sequencing (13 DCM, 10 control [CNT]), focusing on cell adhesion genes. Electron microscopy analysis to visualize ID structural differences and immunohistochemistry experiments of ID proteins was also performed...
2017: PloS One
https://www.readbyqxmd.com/read/28916774/the-mechano-sensing-role-of-the-unique-sh3-insertion-in-plakin-domains-revealed-by-molecular-dynamics-simulations
#10
Csaba Daday, Katra Kolšek, Frauke Gräter
The plakin family of proteins, important actors in cross-linking force-bearing structures in the cell, contain a curious SH3 domain insertion in their chain of spectrin repeats (SRs). While SH3 domains are known to mediate protein-protein interactions, here, its canonical binding site is autoinhibited by the preceding SR. Under force, however, this SH3 domain could be released, and possibly launch a signaling cascade. We performed large-scale force-probe molecular dynamics simulations, across two orders of magnitude of loading rates, to test this hypothesis, on two prominent members of the plakin family: desmoplakin and plectin, obligate proteins at desmosomes and hemidesmosomes, respectively...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28891468/epidermal-growth-factor-receptor-neddylation-is-regulated-by-a-desmosomal-cop9-constitutive-photomorphogenesis-9-signalosome-complex
#11
Nicole Ann Najor, Gillian Nicole Fitz, Jennifer Leigh Koetsier, Lisa Marie Godsel, Lauren Veronica Albrecht, Robert Harmon, Kathleen Janee Green
Cell junctions are scaffolds that integrate mechanical and chemical signaling. We previously showed that a desmosomal cadherin promotes keratinocyte differentiation in an adhesion-independent manner by dampening Epidermal Growth Factor Receptor (EGFR) activity. Here we identify a potential mechanism by which desmosomes assist the de-neddylating COP9 signalosome (CSN) in attenuating EGFR through an association between the Cops3 subunit of the CSN and desmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation...
September 11, 2017: ELife
https://www.readbyqxmd.com/read/28827800/hspb7-prevents-cardiac-conduction-system-defect-through-maintaining-intercalated-disc-integrity
#12
Wern-Chir Liao, Liang-Yi Juo, Yen-Ling Shih, Yen-Hui Chen, Yu-Ting Yan
HSPB7 is a member of the small heat-shock protein (HSPB) family and is expressed in the cardiomyocytes from cardiogenesis onwards. A dramatic increase in HSPB7 is detected in the heart and blood plasma immediately after myocardial infarction. Additionally, several single-nucleotide polymorphisms of HSPB7 have been identified to be associated with heart failure caused by cardiomyopathy in human patients. Although a recent study has shown that HSPB7 is required for maintaining myofiber structure in skeletal muscle, its molecular and physiological functions in the heart remain unclear...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28814507/systematic-gene-tagging-using-crispr-cas9-in-human-stem-cells-to-illuminate-cell-organization
#13
Brock Roberts, Amanda Haupt, Andrew Tucker, Tanya Grancharova, Joy Arakaki, Margaret A Fuqua, Angelique Nelson, Caroline Hookway, Susan A Ludmann, Irina A Mueller, Ruian Yang, Rick Horwitz, Susanne M Rafelski, Ruwanthi N Gunawardane
We present a CRISPR/Cas9 genome-editing strategy to systematically tag endogenous proteins with fluorescent tags in human induced pluripotent stem cells (hiPSC). To date, we have generated multiple hiPSC lines with monoallelic green fluorescent protein tags labeling 10 proteins representing major cellular structures. The tagged proteins include alpha tubulin, beta actin, desmoplakin, fibrillarin, nuclear lamin B1, nonmuscle myosin heavy chain IIB, paxillin, Sec61 beta, tight junction protein ZO1, and Tom20...
October 15, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28803268/proteomic-profiling-of-the-dystrophin-complex-and-membrane-fraction-from-dystrophic-mdx-muscle-reveals-decreases-in-the-cytolinker-desmoglein-and-increases-in-the-extracellular-matrix-stabilizers-biglycan-and-fibronectin
#14
Sandra Murphy, Heinrich Brinkmeier, Mirjam Krautwald, Michael Henry, Paula Meleady, Kay Ohlendieck
The almost complete loss of the membrane cytoskeletal protein dystrophin and concomitant drastic reduction in dystrophin-associated glycoproteins are the underlying mechanisms of the highly progressive neuromuscular disorder Duchenne muscular dystrophy. In order to identify new potential binding partners of dystrophin or proteins in close proximity to the sarcolemmal dystrophin complex, proteomic profiling of the isolated dystrophin-glycoprotein complex was carried out. Subcellular membrane fractionation and detergent solubilisation, in combination with ion exchange, lectin chromatography and density gradient ultracentrifugation, was performed to isolate a dystrophin complex-enriched fraction...
April 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28706505/cell-cell-interaction-proteins-gap-junctions-tight-junctions-and-desmosomes-and-water-transporter-aquaporin-4-in-meningothelial-cells-of-the-human-optic-nerve
#15
Thi Ngoc Co Zeleny, Corina Kohler, Albert Neutzner, Hanspeter E Killer, Peter Meyer
PURPOSE: Meningothelial cells (MECs) play a central role in the maintenance of cerebrospinal fluid (CSF) homeostasis and in physiological and pathophysiological processes within the subarachnoid space (SAS) linking them to optic nerve (ON) pathologies. Still, not much is known about their structural properties that might enable MECs to perform specific functions within the ON microenvironment. METHODS: For closer characterization of the structural properties of the human MEC layer in the arachnoid, we performed immunohistological analyses to evaluate the presence of cell-cell interaction markers, namely, markers for tight junctions (JAM1, Occludin, and Claudin 5), gap junctions (Connexin 26 and 43), and desmosomes (Desmoplakin) as well as for water channel marker aquaporin 4 (AQP4) in retrobulbar, midorbital, and intracanalicular human ON sections...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28699631/co-inheritance-of-mutations-associated-with-arrhythmogenic-cardiomyopathy-and-hypertrophic-cardiomyopathy
#16
Marzia De Bortoli, Chiara Calore, Alessandra Lorenzon, Martina Calore, Giulia Poloni, Elisa Mazzotti, Ilaria Rigato, Martina Perazzolo Marra, Paola Melacini, Sabino Iliceto, Gaetano Thiene, Cristina Basso, Luciano Daliento, Domenico Corrado, Alessandra Rampazzo, Barbara Bauce
Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes identified in Family A, two were diagnosed with ACM and two with HCM. In Family B, one patient was identified to carry mutations in α-T-catenin (CTTNA3) and β-myosin (MYH7) genes, but he does not fulfill the current diagnostic criteria neither for ACM nor for HCM...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28649555/autosomal-dominant-carvajal-plus-syndrome-due-to-the-novel-desmoplakin-mutation-c-1678a%C3%A2-%C3%A2-t-p-ile560phe
#17
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone
BACKGROUND: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, or plakophilin-2 gene. METHODS AND RESULTS: We report a family with Carvajal syndrome which additionally presented with hypoacusis, noncompaction, recurrent pharyngeal infections, oligodontia, and recurrent diarrhoea...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28527814/desmoplakin-missense-and-non-missense-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy-genotype-phenotype-correlation
#18
Silvia Castelletti, Annina S Vischer, Petros Syrris, Lia Crotti, Carla Spazzolini, Alice Ghidoni, Gianfranco Parati, Sharon Jenkins, Maria-Christina Kotta, William J McKenna, Peter J Schwartz, Antonis Pantazis
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC. METHODS AND RESULTS: We analyzed 27 ARVC patients carrying a missense or a non-missense DSP mutation, with complete clinical assessment...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28495795/the-desmoplakin-intermediate-filament-linkage-regulates-cell-mechanics
#19
Joshua A Broussard, Ruiguo Yang, Changjin Huang, S Shiva P Nathamgari, Allison M Beese, Lisa M Godsel, Marihan H Hegazy, Sherry Lee, Fan Zhou, Nathan J Sniadecki, Kathleen J Green, Horacio D Espinosa
The translation of mechanical forces into biochemical signals plays a central role in guiding normal physiological processes during tissue development and homeostasis. Interfering with this process contributes to cardiovascular disease, cancer progression, and inherited disorders. The actin-based cytoskeleton and its associated adherens junctions are well-established contributors to mechanosensing and transduction machinery; however, the role of the desmosome-intermediate filament (DSM-IF) network is poorly understood in this context...
November 7, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28490445/serological-epithelial-component-proteins-identify-intestinal-complications-in-crohn-s-disease
#20
Yunki Y Yau, Rupert W L Leong, Aviv Pudipeddi, Diane Redmond, Valerie C Wasinger
Crohn's Disease (CD) is a relapsing inflammation of the gastrointestinal tract that affects a young working age population and is increasing in developing countries. Half of all sufferers will experience stricturing or fistulizing intestinal complications that require extensive surgical interventions and neither genes nor clinical risk factors can predict this debilitating natural history. We applied discovery and verification phase studies as part of an NCI-FDA modeled biomarker pipeline to identify differences in the low-mass (<25kDa) blood-serum proteome between CD behavioral phenotypes...
July 2017: Molecular & Cellular Proteomics: MCP
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