In vivo translatome profiling reveals early defects in ribosome biology underlying SMA pathogenesis
Paola Bernabò, Toma Tebaldi, Ewout J. N. Groen, Fiona M. Lane, Elena Perenthaler, Francesca Mattedi, Helen J. Newbery, Haiyan Zhou, Paola Zuccotti, Valentina Potrich, Hannah K. Shorrock, Francesco Muntoni A, Alessandro Quattrone, Thomas Henry Gillingwater, Gabriella Viero
The paper identifies early translational defects in SMA mice, showing reduced translational efficiency and ribosome numbers in motor neurons, which are rescued by SMN restoration.
Cell Reports · Oct 1, 2017Peer-reviewedNeuroscience