Loss of SPNS1, a lysosomal transporter, in the nervous system causes dysmyelination and white matter dysplasia
Y. Ichimura, Y. Sugiura, Y. Katsuragi, Y.-S. Sou, T. Uemura, N. Tamura, S. Komatsu-Hirota, T. Ueno, M. Koike, S. Waguri, M. Komatsu
This study shows that loss of SPNS1 in the nervous system causes dysmyelination and white matter dysplasia in mice, suggesting a role for SPNS1 mutations in human congenital white matter disorders.
bioRxiv · May 29, 2024 · PreprintCell Biology