Myospryn deficiency leads to impaired cardiac structure and function and schizophrenia-associated symptoms

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; ho...

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Veröffentlicht in:	Cell and tissue research 2021-09, Vol.385 (3), p.675-696
Hauptverfasser:	Tsoupri, Elsa, Kostavasili, Ioanna, Kloukina, Ismini, Tsikitis, Mary, Miliou, Despoina, Vasilaki, Eleni, Varela, Aimilia, Nakos-Bimpos, Modestos, Davos, Constantinos, Mavroidis, Manolis, Polissidis, Alexia, Capetanaki, Yassemi
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biomedical and Life Sciences Biomedicine Brain architecture Cardiac muscle Cardiomyopathy Cerebellum Desmin Evolution Exploratory behavior Female Functional anatomy Heart Hedonic response Homologous recombination Human Genetics Humans Intracellular Signaling Peptides and Proteins - deficiency Lysosomes Male Mental disorders Mice Mitochondria Molecular Medicine Muscle Proteins - deficiency Muscles Mutation Myocardium - pathology Neostriatum Organelles Phenotypes Proteins Proteomics Regular Article Sarcoplasmic reticulum Schizophrenia Schizophrenia - genetics Skeletal muscle Structure-function relationships Tubules Vacuoles
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