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Corrigendum Free access | 10.1172/JCI179111

KBTBD13 is an actin-binding protein that modulates muscle kinetics

Josine M. de Winter, Joery P. Molenaar, Michaela Yuen, Robbert van der Pijl, Shengyi Shen, Stefan Conijn, Martijn van de Locht, Menne Willigenburg, Sylvia J.P. Bogaards, Esmee S.B. van Kleef, Saskia Lassche, Malin Persson, Dilson E. Rassier, Tamar E. Sztal, Avnika A. Ruparelia, Viola Oorschot, Georg Ramm, Thomas E. Hall, Zherui Xiong, Christopher N. Johnson, Frank Li, Balazs Kiss, Noelia Lozano-Vidal, Reinier A. Boon, Manuela Marabita, Leonardo Nogara, Bert Blaauw, Richard J. Rodenburg, Benno Küsters, Jonne Doorduin, Alan H. Beggs, Henk Granzier, Ken Campbell, Weikang Ma, Thomas Irving, Edoardo Malfatti, Norma B. Romero, Robert J. Bryson-Richardson, Baziel G.M. van Engelen, Nicol C. Voermans, and Coen A.C. Ottenheijm

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Published February 1, 2024 - More info

Published in Volume 134, Issue 3 on February 1, 2024
J Clin Invest. 2024;134(3):e179111. https://doi.org/10.1172/JCI179111.
© 2024 The American Society for Clinical Investigation
Published February 1, 2024 - Version history
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KBTBD13 is an actin-binding protein that modulates muscle kinetics
Josine M. de Winter, … , Nicol C. Voermans, Coen A.C. Ottenheijm
Josine M. de Winter, … , Nicol C. Voermans, Coen A.C. Ottenheijm
Research Article Muscle biology

KBTBD13 is an actin-binding protein that modulates muscle kinetics

Abstract

The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6). In addition to weakness, NEM6 patients have slow muscle relaxation, compromising contractility and daily life activities. The role of KBTBD13 in muscle is unknown, and the pathomechanism underlying NEM6 is undetermined. A combination of transcranial magnetic stimulation–induced muscle relaxation, muscle fiber– and sarcomere-contractility assays, low-angle x-ray diffraction, and superresolution microscopy revealed that the impaired muscle-relaxation kinetics in NEM6 patients are caused by structural changes in the thin filament, a sarcomeric microstructure. Using homology modeling and binding and contractility assays with recombinant KBTBD13, Kbtbd13-knockout and Kbtbd13R408C-knockin mouse models, and a GFP-labeled Kbtbd13-transgenic zebrafish model, we discovered that KBTBD13 binds to actin — a major constituent of the thin filament — and that mutations in KBTBD13 cause structural changes impairing muscle-relaxation kinetics. We propose that this actin-based impaired relaxation is central to NEM6 pathology.

Authors

Josine M. de Winter, Joery P. Molenaar, Michaela Yuen, Robbert van der Pijl, Shengyi Shen, Stefan Conijn, Martijn van de Locht, Menne Willigenburg, Sylvia J.P. Bogaards, Esmee S.B. van Kleef, Saskia Lassche, Malin Persson, Dilson E. Rassier, Tamar E. Sztal, Avnika A. Ruparelia, Viola Oorschot, Georg Ramm, Thomas E. Hall, Zherui Xiong, Christopher N. Johnson, Frank Li, Balazs Kiss, Noelia Lozano-Vidal, Reinier A. Boon, Manuela Marabita, Leonardo Nogara, Bert Blaauw, Richard J. Rodenburg, Benno Küsters, Jonne Doorduin, Alan H. Beggs, Henk Granzier, Ken Campbell, Weikang Ma, Thomas Irving, Edoardo Malfatti, Norma B. Romero, Robert J. Bryson-Richardson, Baziel G.M. van Engelen, Nicol C. Voermans, Coen A.C. Ottenheijm

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Original citation J Clin Invest. 2020;130(2):754–767. https://doi.org/10.1172/JCI124000.

Citation for this corrigendum: J Clin Invest. 2024;134(3):e179111. https://doi.org/10.1172/JCI179111.

In Table 1, the KBTBD13 mutation for Study ID Biopsy NEM6-F10 was incorrect. The correct table line from the table is below. The HTML and PDF files have been updated online.

Table 1

Clinical characteristics and genetic information of patients and controls

The authors regret the error.

Footnotes

See the related article at KBTBD13 is an actin-binding protein that modulates muscle kinetics.

Version history
  • Version 1 (February 1, 2024): Electronic publication
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