SwePub
Tyck till om SwePub Sök här!
Sök i LIBRIS databas

  Utökad sökning

id:"swepub:oai:DiVA.org:oru-99344"
 

Sökning: id:"swepub:oai:DiVA.org:oru-99344" > KBTBD13 is an actin...

KBTBD13 is an actin-binding protein that modulates muscle kinetics

de Winter, J M (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
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.
Yuen, M (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands; iscipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Australia
visa fler...
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
Shen, S (författare)
Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
Conijn, S (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
van de Locht, M (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
Willigenburg, M (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
Bogaards, S J P (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
van Kleef, E S B (författare)
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
Lassche, S (författare)
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
Persson, Malin, 1983- (författare)
Department of Kinesiology and Physical Education, McGill University, Montreal, Canada; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
Rassier, D E (författare)
Department of Kinesiology and Physical Education, McGill University, Montreal, Canada
Sztal, T E (författare)
School of Biological Sciences, Monash University, Melbourne, Australia
Ruparelia, A A (författare)
School of Biological Sciences, Monash University, Melbourne, Australia
Oorschot, V (författare)
Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia
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
Hall, T E (författare)
Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
Xiong, Z (författare)
Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
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
Li, F (författare)
Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
Kiss, B (författare)
Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
Lozano-Vidal, N (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
Boon, R A (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
Marabita, M (författare)
Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy
Nogara, L (författare)
Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy
Blaauw, B (författare)
Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy
Rodenburg, R J (författare)
Department of Pediatrics, Radboud University Medical Centre, Translational Metabolic Laboratory, Nijmegen, Netherlands
Kusters, B (författare)
Department of Pathology, Radboud University Medical Centre, Nijmegen, Netherlands
Doorduin, J (författare)
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
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
Granzier, H (författare)
Department of Cellular and Molecular Medicine, University of Arizona, Tucson Arizona, USA
Campbell, K (författare)
Department of Physiology and Division of Cardiovascular Medicine, University of Kentucky, Lexington Kentucky, USA
Ma, W (författare)
BioCAT, Illinois Institute of Technology, Chicago Illinois, USAS
Irving, T (författare)
BioCAT, Illinois Institute of Technology, Chicago Illinois, USAS
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
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
Bryson-Richardson, R J (författare)
Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
van Engelen, B G M (författare)
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
Voermans, N C (författare)
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
Ottenheijm, C A C (författare)
Department of Physiology, Amsterdam University Medical Center, Netherlands
visa färre...
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.
Ingår i: Journal of Clinical Investigation. - : Stanford University Press. - 0021-9738 .- 1558-8238. ; 130:2, s. 754-767
Relaterad länk:
https://doi.org/10.1...
visa fler...
https://urn.kb.se/re...
https://doi.org/10.1...
http://kipublication...
visa färre...
  • Tidskriftsartikel (refereegranskat)
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)

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy