Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations-Reference-Cited by-同舟云学术

Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations

Published:2021-11-03 Issue:618 Volume:13 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Fomin Andrey¹²^ORCID,Gärtner Anna³^ORCID,Cyganek Lukas¹²⁴⁵^ORCID,Tiburcy Malte²⁵^ORCID,Tuleta Izabela⁶,Wellers Luisa⁷,Folsche Lina⁷^ORCID,Hobbach Anastasia J.⁶^ORCID,von Frieling-Salewsky Marion⁷,Unger Andreas⁷,Hucke Anna⁷^ORCID,Koser Franziska⁷,Kassner Astrid³,Sielemann Katharina³^ORCID,Streckfuß-Bömeke Katrin¹²^ORCID,Hasenfuss Gerd¹²^ORCID,Goedel Alexander⁸⁹¹⁰^ORCID,Laugwitz Karl-Ludwig⁸⁹¹¹,Moretti Alessandra⁸⁹¹¹^ORCID,Gummert Jan F.³¹²,dos Remedios Cristobal G.¹³^ORCID,Reinecke Holger⁶^ORCID,Knöll Ralph¹⁴¹⁵^ORCID,van Heesch Sebastiaan¹⁶¹⁷¹⁸^ORCID,Hubner Norbert¹⁶¹⁷¹⁹²⁰^ORCID,Zimmermann Wolfram H.²⁵²¹^ORCID,Milting Hendrik³^ORCID,Linke Wolfgang A.¹²⁷^ORCID

Affiliation:

1. Clinic for Cardiology and Pneumology, University Medical Center, 37075 Göttingen, Germany.

2. German Centre for Cardiovascular Research, 10785 Berlin, partner site Göttingen, Germany.

3. Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr–University Bochum, 32545 Bad Oeynhausen, Germany.

4. Stem Cell Unit, University Medical Center, 37075 Göttingen, Germany.

5. Institute of Pharmacology and Toxicology, University Medical Center, 37075 Göttingen, Germany.

6. Department of Cardiology I, Coronary, Peripheral Vascular Disease and Heart Failure, 48149 University Hospital Münster, Münster, Germany.

7. Institute of Physiology II, University of Münster, 48149 Münster, Germany.

8. First Medical Department, Cardiology, Technical University of Munich, 81675 Munich, Germany.

9. German Centre for Cardiovascular Research, 10785 Berlin, partner site Munich, Germany.

10. Department of Cell and Molecular Biology, Karolinska Institute, S-17177 Stockholm, Sweden.

11. Munich Heart Alliance, 80802 Munich, Germany.

12. Department of Cardio-Thoracic Surgery, Heart and Diabetes Centre NRW, University Hospital of the Ruhr–University Bochum, 32545 Bad Oeynhausen, Germany.

13. Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia.

14. Department of Medicine, Integrated Cardio Metabolic Centre (ICMC), Heart and Vascular Theme, Karolinska Institute, S-17177 Stockholm, Sweden.

15. Bioscience Cardiovascular, Research and Early Development, Cardiovascular, Renal and Metabolism (CVRM), BioPharmaceuticals R&D, AstraZeneca, 43183 Gothenburg, Sweden.

16. Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.

17. German Centre for Cardiovascular Research, 10785 Berlin, partner site Berlin, Germany.

18. Princess Máxima Center for Pediatric Oncology, 3584 CT Utrecht, Netherlands.

19. Charité-Universitätsmedizin, 10117 Berlin, Germany.

20. Berlin Institute of Health, 10178 Berlin, Germany.

21. Cluster of Excellence “Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells,” University of Göttingen, 37073 Göttingen, Germany.

Abstract

Stable expression of truncated titin proteins and titin haploinsufficiency characterize TTN cardiomyopathy and represent targets for therapy.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference61 articles.

1. Titin-based tension in the cardiac sarcomere: Molecular origin and physiological adaptations

2. Titin Gene and Protein Functions in Passive and Active Muscle

3. Dilated cardiomyopathy: the complexity of a diverse genetic architecture

4. Truncations of Titin Causing Dilated Cardiomyopathy

5. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

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