Loss of the Familial Dysautonomia gene Elp1 in cerebellar granule cell progenitors leads to ataxia in mice
Frederik Arnskötter, Patricia Benites Goncalves da Silva, Mackenna E. Schouw, Chiara Lukasch, Luca Bianchini, Laura Sieber, Jesús García-López, Shiekh Tanveer Ahmad, Yiran Li, Hong Lin, Piyush K. Joshi, Lisa Spänig, Magdalena Radoš, Mykola Roiuk, Mari Sepp, , Lena M. Kutscher
This study shows that loss of Elp1 in cerebellar granule cell progenitors causes ataxia and cerebellar defects in mice, suggesting a role for ELP1 in FD pathogenesis.
Neurobiology of Disease · Jul 10, 2024Peer-reviewedNeuroscience