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KBTBD13 is an actin...
KBTBD13 is an actin-binding protein that modulates muscle kinetics
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- de Winter, J M (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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- Molenaar, J P (författare)
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands.
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- Yuen, M (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands; iscipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Australia
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- van der Pijl, R (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands; Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
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- Shen, S (författare)
- Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
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- Conijn, S (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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- van de Locht, M (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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- Willigenburg, M (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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- Bogaards, S J P (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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- van Kleef, E S B (författare)
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
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- Lassche, S (författare)
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
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- Persson, Malin, 1983- (författare)
- Department of Kinesiology and Physical Education, McGill University, Montreal, Canada; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
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- Rassier, D E (författare)
- Department of Kinesiology and Physical Education, McGill University, Montreal, Canada
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- Sztal, T E (författare)
- School of Biological Sciences, Monash University, Melbourne, Australia
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- Ruparelia, A A (författare)
- School of Biological Sciences, Monash University, Melbourne, Australia
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- Oorschot, V (författare)
- Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia
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- Ramm, G (författare)
- Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia; Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne Victoria, Australia
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- Hall, T E (författare)
- Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
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- Xiong, Z (författare)
- Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
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- Johnson, C N (författare)
- Division of Clinical Pharmacology, Center for Arrhythmia Research and Therapeutics and Center for Structural Biology, Vanderbilt University Medical Center, Nashville Tennessee, USA
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- Li, F (författare)
- Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
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- Kiss, B (författare)
- Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
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- Lozano-Vidal, N (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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- Boon, R A (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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- Marabita, M (författare)
- Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy
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- Nogara, L (författare)
- Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy
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- Blaauw, B (författare)
- Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy
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- Rodenburg, R J (författare)
- Department of Pediatrics, Radboud University Medical Centre, Translational Metabolic Laboratory, Nijmegen, Netherlands
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- Kusters, B (författare)
- Department of Pathology, Radboud University Medical Centre, Nijmegen, Netherlands
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- Doorduin, J (författare)
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
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- Beggs, A H (författare)
- Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston Massachusetts, USA
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- Granzier, H (författare)
- Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
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- Campbell, K (författare)
- Department of Physiology and Division of Cardiovascular Medicine, University of Kentucky, Lexington Kentucky, USA
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- Ma, W (författare)
- BioCAT, Illinois Institute of Technology, Chicago Illinois, USAS
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- Irving, T (författare)
- BioCAT, Illinois Institute of Technology, Chicago Illinois, USAS
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- Malfatti, E (författare)
- Service Neurologie Médicale, Centre de Référence Maladies Neuromusculaire Paris-Nord CHU Raymond- Poincaré, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie Appliquées, UFR des Sciences de la Santé Simone Veil, Université Versailles-Saint-Quentin- en-Yvelines, Garches, France
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- Romero, N B (författare)
- Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France
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- Bryson-Richardson, R J (författare)
- Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
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- van Engelen, B G M (författare)
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
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- Voermans, N C (författare)
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
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- Ottenheijm, C A C (författare)
- Department of Physiology, Amsterdam University Medical Center, Netherlands
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Department of Physiology, Amsterdam University Medical Center, Netherlands Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands (creator_code:org_t)
- Stanford University Press, 2020
- 2020
- Engelska.
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Ingår i: Journal of Clinical Investigation. - : Stanford University Press. - 0021-9738 .- 1558-8238. ; 130:2, s. 754-767
- Relaterad länk:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- 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 Kbtbd13(R408c)-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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Fysiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Physiology (hsv//eng)
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- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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de Winter, J M
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Molenaar, J P
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Yuen, M
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van der Pijl, R
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Shen, S
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Conijn, S
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visa fler...
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van de Locht, M
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Willigenburg, M
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Bogaards, S J P
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van Kleef, E S B
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Lassche, S
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Persson, Malin, ...
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Rassier, D E
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Sztal, T E
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Ruparelia, A A
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Oorschot, V
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Ramm, G
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Hall, T E
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Xiong, Z
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Johnson, C N
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Li, F
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Kiss, B
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Lozano-Vidal, N
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Boon, R A
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Marabita, M
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Nogara, L
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Blaauw, B
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Rodenburg, R J
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Kusters, B
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Doorduin, J
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Beggs, A H
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Granzier, H
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Campbell, K
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Ma, W
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Irving, T
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Malfatti, E
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Romero, N B
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Bryson-Richardso ...
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van Engelen, B G ...
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Voermans, N C
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Ottenheijm, C A ...
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Örebro universitet
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Karolinska Institutet