Loss of SPNS1, a lysosomal transporter, in the nervous system causes dysmyelination and white matter dysplasia
Yoshinobu Ichimura, Yuki Sugiura, Yoshinori Katsuragi, Yu‐shin Sou, Takefumi Uemura, Naoki Tamura, Satoko Komatsu‐Hirota, Takashi Ueno, Masato Koike, Satoshi Waguri, Masaaki 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