Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization

por Scarrott, Joseph M, Alves-Cruzeiro, João, Marchi, Paolo M, Webster, Christopher P, Yang, Zih-Liang, Karyka, Evangelia, Marroccella, Raffaele, Coldicott, Ian, Thomas, Hannah, Azzouz, Mimoun
Publicado 2023

SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction

por Marrone, Lara, Marchi, Paolo M, Webster, Christopher P, Marroccella, Raffaele, Coldicott, Ian, Reynolds, Steven, Alves-Cruzeiro, João, Yang, Zih-Liang, Higginbottom, Adrian, Khundadze, Mukhran, Shaw, Pamela J, Hübner, Christian A, Livesey, Matthew R, Azzouz, Mimoun
Publicado 2022