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http://dx.doi.org/10.1016/j.ajp.2013.10.013 | DOI Listing |
Nat Biomed Eng
September 2024
Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
J Feline Med Surg
October 2023
Faculty of Veterinary Medicine, Department of Genetics, Ankara University, Ankara, Türkiye.
Objectives: The present study aimed to determine the inheritance pattern and genetic cause of congenital radial hemimelia (RH) in cats.
Methods: Clinical and genetic analyses were conducted on a Siamese cat family (n = 18), including two siblings with RH. Radiographs were obtained for the affected kittens and echocardiograms of an affected kitten and sire.
Commun Biol
September 2023
Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, 77096, USA.
Here we show that striated muscle preferentially expressed protein kinase α (Spegα) maintains cardiac function in hearts with Spegβ deficiency. Speg is required for stability of excitation-contraction coupling (ECC) complexes and interacts with esterase D (Esd), Cardiomyopathy-Associated Protein 5 (Cmya5), and Fibronectin Type III and SPRY Domain Containing 2 (Fsd2) in cardiac and skeletal muscle. Mice with a sequence encoding a V5/HA tag inserted into the first exon of the Speg gene (HA-Speg mice) display a >90% decrease in Spegβ but Spegα is expressed at ~50% of normal levels.
View Article and Find Full Text PDFFEBS J
August 2022
Institute of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Germany.
Four-and-a-half LIM domains protein 2 (FHL2) is an anti-hypertrophic adaptor protein that regulates cardiac myocyte signalling and function. Herein, we identified cardiomyopathy-associated 5 (CMYA5) as a novel FHL2 interaction partner in cardiac myocytes. In vitro pull-down assays demonstrated interaction between FHL2 and the N- and C-terminal regions of CMYA5.
View Article and Find Full Text PDFCell Tissue Res
September 2021
Center of Basic Research, Biomedical Research Foundation Academy of Athens, 11527, Athens, Greece.
The desmin-associated protein myospryn, encoded by the cardiomyopathy-associated gene 5 (CMYA5), is a TRIM-like protein associated to the BLOC-1 (Biogenesis of Lysosomes Related Organelles Complex 1) protein dysbindin. Human myospryn mutations are linked to both cardiomyopathy and schizophrenia; however, there is no evidence of a direct causative link of myospryn to these diseases. Therefore, we sought to unveil the role of myospryn in heart and brain.
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