Cell BiologybioRxivPreprint
Loss of SPNS1, a lysosomal transporter, in the nervous system causes dysmyelination and white matter dysplasia
Yoshinobu Ichimura, Yuki Sugiura, Yoshinori Katsuragi…·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.
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