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Sökning: (WFRF:(Marabita F)) > (2020) > KBTBD13 is an actin...

  • de Winter, J MDepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)

KBTBD13 is an actin-binding protein that modulates muscle kinetics

  • Artikel/kapitelEngelska2020

Förlag, utgivningsår, omfång ...

  • Stanford University Press,2020
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-99344
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-99344URI
  • https://doi.org/10.1172/JCI124000DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:142959827URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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 
  • 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 och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Molenaar, J PDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands. (författare)
  • Yuen, MDepartment of Physiology, Amsterdam University Medical Center, Netherlands; iscipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Australia (författare)
  • van der Pijl, RDepartment of Physiology, Amsterdam University Medical Center, Netherlands; Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA (författare)
  • Shen, SDepartment of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA (författare)
  • Conijn, SDepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)
  • van de Locht, MDepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)
  • Willigenburg, MDepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)
  • Bogaards, S J PDepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)
  • van Kleef, E S BDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands (författare)
  • Lassche, SDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands (författare)
  • Persson, Malin,1983-Department of Kinesiology and Physical Education, McGill University, Montreal, Canada; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden(Swepub:oru)mlpn (författare)
  • Rassier, D EDepartment of Kinesiology and Physical Education, McGill University, Montreal, Canada (författare)
  • Sztal, T ESchool of Biological Sciences, Monash University, Melbourne, Australia (författare)
  • Ruparelia, A ASchool of Biological Sciences, Monash University, Melbourne, Australia (författare)
  • Oorschot, VMonash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia (författare)
  • Ramm, GMonash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia; Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne Victoria, Australia (författare)
  • Hall, T EInstitute for Molecular Bioscience, University of Queensland, Queensland, Australia (författare)
  • Xiong, ZInstitute for Molecular Bioscience, University of Queensland, Queensland, Australia (författare)
  • Johnson, C NDivision of Clinical Pharmacology, Center for Arrhythmia Research and Therapeutics and Center for Structural Biology, Vanderbilt University Medical Center, Nashville Tennessee, USA (författare)
  • Li, FDepartment of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA (författare)
  • Kiss, BDepartment of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA (författare)
  • Lozano-Vidal, NDepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)
  • Boon, R ADepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)
  • Marabita, MVenetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy (författare)
  • Nogara, LVenetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy (författare)
  • Blaauw, BVenetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy (författare)
  • Rodenburg, R JDepartment of Pediatrics, Radboud University Medical Centre, Translational Metabolic Laboratory, Nijmegen, Netherlands (författare)
  • Kusters, BDepartment of Pathology, Radboud University Medical Centre, Nijmegen, Netherlands (författare)
  • Doorduin, JDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands (författare)
  • Beggs, A HDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston Massachusetts, USA (författare)
  • Granzier, HDepartment of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA (författare)
  • Campbell, KDepartment of Physiology and Division of Cardiovascular Medicine, University of Kentucky, Lexington Kentucky, USA (författare)
  • Ma, WBioCAT, Illinois Institute of Technology, Chicago Illinois, USAS (författare)
  • Irving, TBioCAT, Illinois Institute of Technology, Chicago Illinois, USAS (författare)
  • Malfatti, EService 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 (författare)
  • Romero, N BSorbonne 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 (författare)
  • Bryson-Richardson, R JDepartment of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden (författare)
  • van Engelen, B G MDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands (författare)
  • Voermans, N CDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands (författare)
  • Ottenheijm, C A CDepartment of Physiology, Amsterdam University Medical Center, Netherlands (författare)
  • Department of Physiology, Amsterdam University Medical Center, NetherlandsDepartment 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)

Sammanhörande titlar

  • Ingår i:Journal of Clinical Investigation: Stanford University Press130:2, s. 754-7670021-97381558-8238

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