Daniel D Lam, Rhîannan H Williams, Ernesto Lujan, Koji Tanabe, Georg Huber, Nay Lui Saw, Juliane Merl-Pham, Aaro V Salminen, David Lohse, Sally Spendiff, Melanie J Plastini, Michael Zech, Hanns Lochmüller, Arie Geerlof, Stefanie M Hauck, Mehrdad Shamloo, Marius Wernig, Juliane Winkelmann
Collagen VI is a key component of muscle basement membranes, and genetic variants can cause monogenic muscular dystrophies. Conversely, human genetic studies recently implicated collagen VI in central nervous system function, with variants causing the movement disorder dystonia. To elucidate the neurophysiological role of collagen VI, we generated mice with a truncation of the dystonia-related collagen α3 (VI) (COL6A3) C-terminal domain (CTD). These Col6a3 CTT mice showed a recessive dystonia-like phenotype in both sexes...
December 22, 2021: Journal of Neuroscience