Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles
Anne-Kathrin Lutz, Stefanie Pfaender, Berra Incearap, Valentin Ioannidis, Ilaria Ottonelli, Karl J. Föhr, Judith Cammerer, Marvin Zoller, Julia Higelin, Federica Giona, Maximilian Stetter, Nicole Stoecker, Najwa Ouali Alami, Michael P. Schön, Michael Orth, Stefan Liebau, Gotthold Barbi, Andreas M. Grabrucker, Richard Delorme, Michael Fauler, Benjamin Mayer, Sarah Jesse, Francesco Roselli, Albert C. Ludolph, Thomas Bourgeron, Chiara Verpelli, Maria Demestre, Tobias M. Boeckers
Abstract
mice could be rescued with the troponin activator Tirasemtiv that sensitizes muscle fibers to calcium. Our observations give insight into the function of SHANK3 besides the central nervous system and imply potential treatment strategies for SHANK3-associated ASD.
Topics & Concepts
HypotoniaBiologySarcomereNeuromuscular junctionSkeletal muscleMyogenesisInternal medicineEndocrinologyMyocyteMedicineNeuroscienceAnatomyGeneticsAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersCongenital heart defects research