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Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.

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第一作者： Mehroz,Ehsan

第一单位： Division of Cardiovascular Medicine, Radcliffe Department of Medicine, British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, UK.

作者： Mehroz,Ehsan ^[1] ; Matthew,Kelly ^[2] ; Charlotte,Hooper ^[1] ; Arash,Yavari ^[3] ; Julia,Beglov ^[2] ; Mohamed,Bellahcene ^[2] ; Kirandeep,Ghataorhe ^[1] ; Giulia,Poloni ^[1] ; Anuj,Goel ^[2] ; Theodosios,Kyriakou ^[2] ; Karin,Fleischanderl ^[4] ; Elisabeth,Ehler ^[4] ; Eugene,Makeyev ^[5] ; Stephan,Lange ^[6] ; Houman,Ashrafian ^[3] ; Charles,Redwood ^[1] ; Benjamin,Davies ^[7] ; Hugh,Watkins ^[2] ; Katja,Gehmlich ^[8]

作者单位： Division of Cardiovascular Medicine, Radcliffe Department of Medicine, British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, UK. ^[1] Division of Cardiovascular Medicine, Radcliffe Department of Medicine, British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. ^[2] Division of Cardiovascular Medicine, Radcliffe Department of Medicine, British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; Experimental Therapeutics, Radcliffe Department of Medicine, University of Oxford, UK. ^[3] Randall Centre for Cell and Molecular Biophysics, School of Cardiovascular Medicine and Sciences, King's College London BHF Centre of Research Excellence, London, UK. ^[4] Centre for Developmental Neurobiology, King's College London, London, UK. ^[5] School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA. ^[6] Transgenic Core, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. ^[7] Division of Cardiovascular Medicine, Radcliffe Department of Medicine, British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. Electronic address: katja.gehmlich@cardiov.ox.ac.uk. ^[8]

关键词 Hypertrophic cardiomyopathy In vivo phenotyping MLP C58G mutation Mouse knock-in model Proteasome Protein depletion RNAseq transcriptome analysis Sarcomere