Results 31 to 40 of about 9,938 (215)

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

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 ...
Albrecht, Lauren V., Zhang, Lichao, Shabanowitz, Jeffrey, Purevjav, Enkhsaikhan, Towbin, Jeffrey A., Hunt, Donald F., Green, Kathleen J.   +6 more
openaire   +2 more sources

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E., Hansen, C. D., McLean, W. H. I., Milstone, L. M., O'Toole, E., Schwartz, M. E., Shepherd, A. A., Smith, F. J. D., Sprecher, E., Wilson, N. J.   +9 more
core   +3 more sources

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).
Hopkins, Gemma, Kimura, Tomomi E., Garrod, David R.   +2 more
openaire   +3 more sources

Nonischemic left ventricular scar and cardiac sudden death in the young [PDF]

, 2016
Nonischemic Left Ventricular Scar (NLVS) is a pattern of myocardial injury characterized by midventricular and/or subepicardial gadolinium hyper enhancement at cardiac magnetic resonance, in absence of significant coronary artery disease.
CERBELLI, BRUNA, CIALLELLA, Costantino, D'AMATI, Giulia, DE DOMINICIS, ENRICO, DI GIOIA, Cira Rosaria Tiziana, GIORDANO, Carla, PALMIERI, VINCENZO, PERLI, ELENA, PISANO, ANNALINDA, Poscolieri, Barbara, Zeppilli, Paolo   +10 more
core   +1 more source

Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome

JACC: Case Reports, 2020
In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified.
Maria Grazia De Gregorio, MD, Francesca Girolami, BS, Benedetta Tomberli, MD, Guendalina Rossi, MD, Alessia Tomberli, RN, Katia Baldini, RN, Iacopo Olivotto, MD   +6 more
doaj   +1 more source

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

BMC Medical Genetics, 2020
Background Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (
Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo   +8 more
doaj   +1 more source

Cell-cell adhesions and cell contractility are upregulated upon desmosome disruption. [PDF]

PLoS ONE, 2014
Desmosomes are perturbed in a number of disease states - including genetic disorders, autoimmune and bacterial diseases. Here, we report unexpected changes in other cell-cell adhesion structures upon loss of desmosome function. We found that perturbation
Kaelyn Sumigray, Kang Zhou, Terry Lechler   +2 more
doaj   +1 more source

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 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 ...
Patel, Dipal M., Dubash, Adi D., Kreitzer, Geri, Green, Kathleen J.   +3 more
openaire   +2 more sources