TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy

Li Zhang; Felicia Dietsche; Bruno Seitaj; Liliana Rojas-Charry; Nadina Latchman; Dhanendra Tomar; Rob CI Wüst; Alexander Nickel; Katrin BM Frauenknecht; Benedikt Schoser; Sven Schumann; Michael J Schmeisser; Johannes vom Berg; Thorsten Buch; Stefanie Finger; Philip Wenzel; Christoph Maack; John W Elrod; Jan B Parys; Geert Bultynck; Axel Methner

doi:10.26508/lsa.202201478

Research Article

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TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy

Li Zhang, Felicia Dietsche, View ORCID ProfileBruno Seitaj, Liliana Rojas-Charry, Nadina Latchman, View ORCID ProfileDhanendra Tomar, View ORCID ProfileRob CI Wüst, Alexander Nickel, View ORCID ProfileKatrin BM Frauenknecht, Benedikt Schoser, View ORCID ProfileSven Schumann, View ORCID ProfileMichael J Schmeisser, Johannes vom Berg, Thorsten Buch, View ORCID ProfileStefanie Finger, Philip Wenzel, Christoph Maack, View ORCID ProfileJohn W Elrod, View ORCID ProfileJan B Parys, View ORCID ProfileGeert Bultynck, View ORCID ProfileAxel Methner Correspondence email

Li Zhang

1Institute for Molecular Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

Roles: Formal analysis and investigation

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Felicia Dietsche

Roles: Investigation

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Bruno Seitaj

2Department of Cellular and Molecular Medicine, KU Leuven, Laboratory of Molecular and Cellular Signaling, Leuven, Belgium

Roles: Investigation and methodology

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ORCID record for Bruno Seitaj

Liliana Rojas-Charry

1Institute for Molecular Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

8Institute of Anatomy, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

Roles: Formal analysis and investigation

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Nadina Latchman

3Center for Translational Medicine, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA

Roles: Formal analysis and investigation

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Dhanendra Tomar

3Center for Translational Medicine, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA

Roles: Formal analysis, Investigation, Methodology

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ORCID record for Dhanendra Tomar

Rob CI Wüst

4Laboratory for Myology, Department of Human Movement Sciences, Faculty of Behavioural and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Roles: Formal analysis and writing—review and editing

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Alexander Nickel

5Department of Translational Research, Comprehensive Heart Failure Center (CHFC), University Clinic Würzburg, Würzburg, Germany

Roles: Supervision, Investigation, Methodology

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Katrin BM Frauenknecht

6Institute of Neuropathology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

Roles: Supervision and investigation

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Benedikt Schoser

7Friedrich-Baur-Institute, Department of Neurology, LMU Clinic, Munich, Germany

Roles: Supervision, Investigation, Writing—review and editing

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Sven Schumann

8Institute of Anatomy, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

Roles: Supervision and investigation

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Michael J Schmeisser

8Institute of Anatomy, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

Roles: Supervision and methodology

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Johannes vom Berg

9Institute of Laboratory Animal Science, University of Zurich, Zürich, Switzerland

Roles: Investigation and methodology

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Thorsten Buch

9Institute of Laboratory Animal Science, University of Zurich, Zürich, Switzerland

Roles: Supervision, Methodology, Writing—review and editing

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Stefanie Finger

10Center for Thrombosis and Hemostasis, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

Roles: Formal analysis, Investigation, Methodology

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Philip Wenzel

10Center for Thrombosis and Hemostasis, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

11Department of Cardiology, Cardiology I, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

12German Center for Cardiovascular Research (DZHK), Partner Site Rhine-Main, Mainz, Germany

Roles: Supervision and methodology

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Christoph Maack

5Department of Translational Research, Comprehensive Heart Failure Center (CHFC), University Clinic Würzburg, Würzburg, Germany

Roles: Supervision and investigation

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John W Elrod

3Center for Translational Medicine, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA

Roles: Supervision, Investigation, Methodology, Writing—review and editing

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ORCID record for John W Elrod

Jan B Parys

2Department of Cellular and Molecular Medicine, KU Leuven, Laboratory of Molecular and Cellular Signaling, Leuven, Belgium

Roles: Methodology and writing—review and editing

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ORCID record for Jan B Parys

Geert Bultynck

2Department of Cellular and Molecular Medicine, KU Leuven, Laboratory of Molecular and Cellular Signaling, Leuven, Belgium

Roles: Formal analysis, Supervision, Funding acquisition, Investigation, Methodology, Writing—original draft, review, and editing

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ORCID record for Geert Bultynck

Axel Methner

1Institute for Molecular Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany

Roles: Conceptualization, Data curation, Formal analysis, Supervision, Funding acquisition, Visualization, Project administration, Writing—original draft, review, and editing

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ORCID record for Axel Methner
For correspondence: axel.methner@gmail.com

Published 17 June 2022. DOI: 10.26508/lsa.202201478

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TMBIM5

Li Zhang, Felicia Dietsche, Bruno Seitaj, Liliana Rojas-Charry, Nadina Latchman, Dhanendra Tomar, Rob CI Wüst, Alexander Nickel, Katrin BM Frauenknecht, Benedikt Schoser, Sven Schumann, Michael J Schmeisser, Johannes vom Berg, Thorsten Buch, Stefanie Finger, Philip Wenzel, Christoph Maack, John W Elrod, Jan B Parys, Geert Bultynck, Axel Methner

Life Science Alliance Jun 2022, 5 (10) e202201478; DOI: 10.26508/lsa.202201478

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TMBIM5

Life Science Alliance Jun 2022, 5 (10) e202201478; DOI: 10.26508/lsa.202201478

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October 2022

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