Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy

Autor: Grosch, M., Schraft, L., Chan, A., Küchenhoff, L., Rapti, K., Ferreira, A.M., Kornienko, J., Li, S., Radke, M.H., Krämer, C., Clauder-Münster, S., Perlas, E., Backs, J., Gotthardt, M., Dieterich, C., van den Hoogenhof, M.M.G., Grimm, D., Steinmetz, L.M.

Dilated cardiomyopathy is the second most common cause for heart failure with no cure except a high-risk heart transplantation. Approximately 30% of patients harbor heritable mutations which are amenable to CRISPR-based gene therapy. However, challen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=mdc______med::9320cb63ada0ccde084f07108e87431d
http://edoc.mdc-berlin.de/23544/1/23544oa.pdf

Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy.

Autor: Lennermann DC; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany., Pepin ME; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany., Grosch M; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany.; Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.; Department of Genetics, Stanford University School of Medicine, Stanford, California., Konrad L; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany., Kemmling E; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany., Hartmann J; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany., Nolte JL; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany., Clauder-Münster S; Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany., Kayvanpour E; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany.; Cardiology, Angiology, and Pneumology, Department of Internal Medicine III, University Hospital Heidelberg, Heidelberg, Germany., Sedaghat-Hamedani F; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany.; Cardiology, Angiology, and Pneumology, Department of Internal Medicine III, University Hospital Heidelberg, Heidelberg, Germany., Haas J; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany.; Cardiology, Angiology, and Pneumology, Department of Internal Medicine III, University Hospital Heidelberg, Heidelberg, Germany., Meder B; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany.; Cardiology, Angiology, and Pneumology, Department of Internal Medicine III, University Hospital Heidelberg, Heidelberg, Germany., van den Boogaard M; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam, The Netherlands., Amin AS; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam, The Netherlands., Dewenter M; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany., Krüger M; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany., Steinmetz LM; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany.; Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.; Department of Genetics, Stanford University School of Medicine, Stanford, California., Backs J; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany., van den Hoogenhof MMG; Institute of Experimental Cardiology, University Hospital Heidelberg, Heidelberg, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany.

Publikováno v: American journal of physiology. Heart and circulatory physiology [Am J Physiol Heart Circ Physiol] 2022 Dec 01; Vol. 323 (6), pp. H1296-H1310. Date of Electronic Publication: 2022 Nov 11.

Patient-derived gene and protein expression signatures of NGLY1 deficiency.

Autor: Rauscher B; Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg 69117, Germany., Mueller WF; Grace Science Foundation, Palo Alto, CA 94305, USA., Clauder-Münster S; Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg 69117, Germany., Jakob P; Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg 69117, Germany., Islam MS; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Sun H; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Ghidelli-Disse S; Cellzome GmbH, a GlaxoSmithKline Company, Meyerhofstrasse 1, Heidelberg 69117, Germany., Boesche M; Cellzome GmbH, a GlaxoSmithKline Company, Meyerhofstrasse 1, Heidelberg 69117, Germany., Bantscheff M; Cellzome GmbH, a GlaxoSmithKline Company, Meyerhofstrasse 1, Heidelberg 69117, Germany., Pflaumer H; Cellzome GmbH, a GlaxoSmithKline Company, Meyerhofstrasse 1, Heidelberg 69117, Germany., Collier P; Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg 69117, Germany., Haase B; Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg 69117, Germany., Chen S; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Hoffman R; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Wang G; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Benes V; Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg 69117, Germany., Drewes G; Cellzome GmbH, a GlaxoSmithKline Company, Meyerhofstrasse 1, Heidelberg 69117, Germany., Snyder M; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Steinmetz LM; Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg 69117, Germany.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA.

Publikováno v: Journal of biochemistry [J Biochem] 2022 Feb 21; Vol. 171 (2), pp. 187-199.

Pleiotropic effects of PAB1 deletion: Extensive changes in the yeast proteome, transcriptome, and translatome.

Autor: Mangkalaphiban, Kotchaphorn¹ (AUTHOR), Ganesan, Robin¹ (AUTHOR), Jacobson, Allan¹ (AUTHOR) allan.jacobson@umassmed.edu

Publikováno v: PLoS Genetics. 9/5/2024, Vol. 20 Issue 9, p1-37. 37p.

Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.

Autor: Fujihira H; Glycometabolic Biochemistry Laboratory, Cluster for Pioneering Research, RIKEN, Saitama 351-0198, Japan; Division of Glycobiologics, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan., Masahara-Negishi Y; Glycometabolic Biochemistry Laboratory, Cluster for Pioneering Research, RIKEN, Saitama 351-0198, Japan., Akimoto Y; Department of Anatomy, Kyorin University School of Medicine, Tokyo 181-8611, Japan., Hirayama H; Glycometabolic Biochemistry Laboratory, Cluster for Pioneering Research, RIKEN, Saitama 351-0198, Japan; Suzuki Project, T-CiRA Joint Program, Fujisawa, Kanagawa 251-8555, Japan., Lee HC; Department of Biochemistry, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan., Story BA; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg 69117, Germany., Mueller WF; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg 69117, Germany., Jakob P; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg 69117, Germany., Clauder-Münster S; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg 69117, Germany., Steinmetz LM; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg 69117, Germany; Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305, United States., Radhakrishnan SK; Department of Pathology, Virginia Commonwealth University, Richmond, VA 23298, United States., Kawakami H; Department of Anatomy, Kyorin University School of Medicine, Tokyo 181-8611, Japan., Kamada Y; Department of Molecular Biochemistry and Clinical Investigation, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan., Miyoshi E; Department of Molecular Biochemistry and Clinical Investigation, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan., Yokomizo T; Department of Biochemistry, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan., Suzuki T; Glycometabolic Biochemistry Laboratory, Cluster for Pioneering Research, RIKEN, Saitama 351-0198, Japan; Suzuki Project, T-CiRA Joint Program, Fujisawa, Kanagawa 251-8555, Japan. Electronic address: tsuzuki_gm@riken.jp.

Publikováno v: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2020 Mar 01; Vol. 1866 (3), pp. 165588. Date of Electronic Publication: 2019 Nov 13.