Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

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作者： Dominik,Sellung ^[1] ; Lorena,Heil ^[2] ; Nassam,Daya ^[1] ; Frank,Jacobsen ^[1] ; Janine,Mertens-Rill ^[1] ; Heidi,Zhuge ^[1] ; Kristina,Döring ^[3] ; Misagh,Piran ^[4] ; Hendrik,Milting ^[4] ; Andreas,Unger ^[5] ; Wolfgang A,Linke ^[5] ; Rudi,Kley ^[6] ; Corinna,Preusse ^[7] ; Andreas,Roos ^[1] ; Dieter O,Fürst ^[2] ; Peter F M van der,Ven ^[2] ; Matthias,Vorgerd ^[1]

作者单位： Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany. ^[1] Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany. ^[2] Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany. ^[3] Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany. ^[4] Institute of Physiology II, University of Münster, 48149 Münster, Germany. ^[5] Department of Neurology and Clinical Neurophysiology, St. Marien-Hospital Borken, 46325 Borken, Germany. ^[6] Department of Neuropathology, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany. ^[7]

关键词 cardiomyopathy chaperone-assisted selected autophagy filamin c myofibrillar myopathy protein folding protein quality system

主题词人类(Humans);肌纤维, 骨骼(Muscle Fibers, Skeletal);肌病, 结构性, 先天性(Myopathies, Structural, Congenital);蛋白酶体内肽酶复合物(Proteasome Endopeptidase Complex);泛素(Ubiquitin)

DOI 10.3390/cells12091321

PMID 37174721

发布时间 2023-05-19

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2023年12卷9期

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Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

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Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

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