Results 51 to 60 of about 11,754 (266)

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis

Journal of Clinical Medicine, 2023
Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report,
T. Çimen, A. Medeiros-Domingo, A. Kolios, D. Akdis, S. Anwer, F. Tanner, C. Brunckhorst, F. Duru, A. Saguner   +8 more
semanticscholar   +1 more source

Desmoplakin Is Essential for Epidermal Sheet Formation [PDF]

Journal of Investigative Dermatology, 2007
Vasioukhin et al. (2001) provided a dramatic demonstration that the desmosomal cytolinker protein desmoplakin (Dp) is essential for maintaining the integrity of epithelial cell sheets. Furthermore, they show a requirement for desmosomes in efficient maturation of adherens junctions (AJs).
David R. Garrod, Tomomi E. Kimura, Gemma Hopkins   +2 more
openaire   +4 more sources

Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin–EB1 interactions [PDF]

Journal of Cell Biology, 2014
Mechanisms by which microtubule plus ends interact with regions of cell–cell contact during tissue development and morphogenesis are not fully understood. We characterize a previously unreported interaction between the microtubule binding protein end-binding 1 (EB1) and the desmosomal protein desmoplakin (DP), and demonstrate that DP–EB1 interactions ...
Kathleen J. Green, Adi D. Dubash, Geri Kreitzer, Dipal M. Patel   +3 more
openaire   +3 more sources

GSK3- and PRMT-1–dependent modifications of desmoplakin control desmoplakin–cytoskeleton dynamics [PDF]

Journal of Cell Biology, 2015
Intermediate filament (IF) attachment to intercellular junctions is required for skin and heart integrity, but how the strength and dynamics of this attachment are modulated during normal and pathological remodeling is poorly understood. We show that glycogen synthase kinase 3 (GSK3) and protein arginine methyltransferase 1 (PRMT-1) cooperate to ...
Jeffrey Shabanowitz, Jeffrey A. Towbin, Enkhsaikhan Purevjav, Lauren V. Albrecht, Kathleen J. Green, Donald F. Hunt, Lichao Zhang   +6 more
openaire   +3 more sources

Clinical features and outcomes in carriers of pathogenic desmoplakin variants. [PDF]

Eur Heart J
Background and Aims Pathogenic variants in the desmoplakin (DSP) gene are associated with the development of a distinct arrhythmogenic cardiomyopathy phenotype not fully captured by either dilated cardiomyopathy (DCM), non-dilated left ventricular ...
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA.   +60 more
europepmc   +2 more sources

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation, 2020
Supplemental Digital Content is available in the text. Background: Mutations in desmoplakin (DSP), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy that has been variably ...
Eric Smith, N. Lakdawala, N. Papoutsidakis, G. Aubert, A. Mazzanti, Anthony C. McCanta, P. Agarwal, P. Arscott, Lisa M. Dellefave‐Castillo, E. Vorovich, K. Nutakki, L. Wilsbacher, S. Priori, D. Jacoby, E. McNally, A. Helms   +15 more
semanticscholar   +1 more source

CRISPR interference interrogation of COPD GWAS genes reveals the functional significance of desmoplakin in iPSC-derived alveolar epithelial cells

Science Advances, 2022
Genome-wide association studies (GWAS) have identified dozens of loci associated with chronic obstructive pulmonary disease (COPD) susceptibility; however, the function of associated genes in the cell type(s) affected in disease remains poorly understood,
R. Werder, T. Liu, K. Abo, J. Lindstrom-Vautrin, C. Villacorta-Martin, Jessie Huang, A. Hinds, Nathan Boyer, E. Bullitt, M. Liesa, E. Silverman, D. Kotton, M. Cho, Xiaobo Zhou, A. Wilson   +14 more
semanticscholar   +1 more source

Intracellular Distribution of Desmoplakin in Human Odontoblasts [PDF]

Journal of Histochemistry & Cytochemistry, 2005
Coexpression of desmosomal proteins and vimentin has been reported in a specific mesenchymal phenotype. This study investigated the expression of vimentin-binding desmosomal proteins in human dental pulp fibroblasts (DPF) and odontoblasts. The dental pulp has no cells expressing desmocollin (DSC) 1–3, desmoglein (DSG) 1–3, junction plakoglobin (JUP ...
Shinichiro Kuroshima, Yuji Yamaoka, Shigemitsu Yoshida, Yoshihiko Sawa   +3 more
openaire   +3 more sources

Exploring the phenotypic spectrum of desmoplakin cardiomyopathy [PDF]

European Heart Journal, 2020
Abstract Introduction Desmoplakin (DSP) gene mutations are reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), but recent evidence suggests that they manifest as a much broader range of phenotypes.
Neha Sekhri, Mohammed M Akhtar, Perry M. Elliott, Konstantinos Savvatis, Saidi A Mohiddin, Luis R. Lopes, Petros Syrris, Alexandros Protonotarios, Douglas Ewan Cannie   +8 more
openaire   +2 more sources

Palmitoylation of Desmoglein 2 Is a Regulator of Assembly Dynamics and Protein Turnover. [PDF]

, 2016
Desmosomes are prominent adhesive junctions present between many epithelial cells as well as cardiomyocytes. The mechanisms controlling desmosome assembly and remodeling in epithelial and cardiac tissue are poorly understood.
Johnson, Keith R., Kowalczyk, Andrew P., Lewis, Joshua D., Mahoney, My G., Overmiller, Andrew M., Roberts, Brett J., Svoboda, Robert A., Wahl, James K.   +7 more
core   +2 more sources