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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 10189naa a2200817 4500 | |
| 001 | oai:DiVA.org:oru-99344 | |
| 003 | SwePub | |
| 008 | 220602s2020 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:142959827 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-993442 URI |
| 024 | 7 | a https://doi.org/10.1172/JCI1240002 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1429598272 URI |
| 040 | a (SwePub)orud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a de Winter, J Mu Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 245 | 1 0 | a KBTBD13 is an actin-binding protein that modulates muscle kinetics |
| 264 | 1 | b Stanford University Press,c 2020 |
| 338 | a print2 rdacarrier | |
| 500 | a Funding agencies:Dutch Foundation for Scientific Research VIDI 016.126.319Princess Beatrix Muscle Foundation W.OR17-08H2020-MSCA-RISE-2014 645648Advanced Photon Source DE-AC02-06CH11357Foundation Building Strength for Nemaline MyopathyNational Health and Medical Research Council (NHMRC) of Australia APP1121651 United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) NIH R01 HD075802 Muscular Dystrophy Association MDA602235 NIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) NIH R01 AR053897 United States Department of Health & Human Services National Institutes of Health (NIH) - USA HL133359 United States Department of Energy (DOE) DE-AC02-06CH11357 NIH National Institute of General Medical Sciences (NIGMS)9 P41 GM103622 1S10OD018090-01 | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Fysiologi0 (SwePub)301062 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Physiology0 (SwePub)301062 hsv//eng |
| 700 | 1 | a Molenaar, J Pu Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands.4 aut |
| 700 | 1 | a Yuen, Mu Department of Physiology, Amsterdam University Medical Center, Netherlands; iscipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Australia4 aut |
| 700 | 1 | a van der Pijl, Ru Department of Physiology, Amsterdam University Medical Center, Netherlands; Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA4 aut |
| 700 | 1 | a Shen, Su Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA4 aut |
| 700 | 1 | a Conijn, Su Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 700 | 1 | a van de Locht, Mu Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 700 | 1 | a Willigenburg, Mu Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 700 | 1 | a Bogaards, S J Pu Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 700 | 1 | a van Kleef, E S Bu Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands4 aut |
| 700 | 1 | a Lassche, Su Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands4 aut |
| 700 | 1 | a Persson, Malin,d 1983-u Department of Kinesiology and Physical Education, McGill University, Montreal, Canada; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden4 aut0 (Swepub:oru)mlpn |
| 700 | 1 | a Rassier, D Eu Department of Kinesiology and Physical Education, McGill University, Montreal, Canada4 aut |
| 700 | 1 | a Sztal, T Eu School of Biological Sciences, Monash University, Melbourne, Australia4 aut |
| 700 | 1 | a Ruparelia, A Au School of Biological Sciences, Monash University, Melbourne, Australia4 aut |
| 700 | 1 | a Oorschot, Vu Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia4 aut |
| 700 | 1 | a Ramm, Gu Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia; Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne Victoria, Australia4 aut |
| 700 | 1 | a Hall, T Eu Institute for Molecular Bioscience, University of Queensland, Queensland, Australia4 aut |
| 700 | 1 | a Xiong, Zu Institute for Molecular Bioscience, University of Queensland, Queensland, Australia4 aut |
| 700 | 1 | a Johnson, C Nu Division of Clinical Pharmacology, Center for Arrhythmia Research and Therapeutics and Center for Structural Biology, Vanderbilt University Medical Center, Nashville Tennessee, USA4 aut |
| 700 | 1 | a Li, Fu Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA4 aut |
| 700 | 1 | a Kiss, Bu Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA4 aut |
| 700 | 1 | a Lozano-Vidal, Nu Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 700 | 1 | a Boon, R Au Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 700 | 1 | a Marabita, Mu Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy4 aut |
| 700 | 1 | a Nogara, Lu Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy4 aut |
| 700 | 1 | a Blaauw, Bu Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy4 aut |
| 700 | 1 | a Rodenburg, R Ju Department of Pediatrics, Radboud University Medical Centre, Translational Metabolic Laboratory, Nijmegen, Netherlands4 aut |
| 700 | 1 | a Kusters, Bu Department of Pathology, Radboud University Medical Centre, Nijmegen, Netherlands4 aut |
| 700 | 1 | a Doorduin, Ju Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands4 aut |
| 700 | 1 | a Beggs, A Hu Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston Massachusetts, USA4 aut |
| 700 | 1 | a Granzier, Hu Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA4 aut |
| 700 | 1 | a Campbell, Ku Department of Physiology and Division of Cardiovascular Medicine, University of Kentucky, Lexington Kentucky, USA4 aut |
| 700 | 1 | a Ma, Wu BioCAT, Illinois Institute of Technology, Chicago Illinois, USAS4 aut |
| 700 | 1 | a Irving, Tu BioCAT, Illinois Institute of Technology, Chicago Illinois, USAS4 aut |
| 700 | 1 | a Malfatti, Eu 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, France4 aut |
| 700 | 1 | a Romero, N Bu 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, France4 aut |
| 700 | 1 | a Bryson-Richardson, R Ju Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden4 aut |
| 700 | 1 | a van Engelen, B G Mu Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands4 aut |
| 700 | 1 | a Voermans, N Cu Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands4 aut |
| 700 | 1 | a Ottenheijm, C A Cu Department of Physiology, Amsterdam University Medical Center, Netherlands4 aut |
| 710 | 2 | a Department of Physiology, Amsterdam University Medical Center, Netherlandsb Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands.4 org |
| 773 | 0 | t Journal of Clinical Investigationd : Stanford University Pressg 130:2, s. 754-767q 130:2<754-767x 0021-9738x 1558-8238 |
| 856 | 4 | u https://doi.org/10.1172/JCI124000y Fulltext |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-99344 |
| 856 | 4 8 | u https://doi.org/10.1172/JCI124000 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:142959827 |
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- de Winter, J M
- Molenaar, J P
- Yuen, M
- van der Pijl, R
- Shen, S
- Conijn, S
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- van de Locht, M
- Willigenburg, M
- Bogaards, S J P
- van Kleef, E S B
- Lassche, S
- Persson, Malin, ...
- Rassier, D E
- Sztal, T E
- Ruparelia, A A
- Oorschot, V
- Ramm, G
- Hall, T E
- Xiong, Z
- Johnson, C N
- Li, F
- Kiss, B
- Lozano-Vidal, N
- Boon, R A
- Marabita, M
- Nogara, L
- Blaauw, B
- Rodenburg, R J
- Kusters, B
- Doorduin, J
- Beggs, A H
- Granzier, H
- Campbell, K
- Ma, W
- Irving, T
- Malfatti, E
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