Article

Loss of SPNS1, a lysosomal transporter, in the nervous system causes dysmyelination and white matter dysplasia

2024-05-29

Abstract excerpt

Protein spinster homolog 1 (SPNS1) is a lysosomal transporter of lysophospholipids and sphingosine, which has recently been identified to be mutated in patients with neurodegeneration. However, its physiological role, especially in the nervous system, remains largely unknown. In this study, we generated, for the first time, nervous system-specific Spns1 knockout mice, Spns1 flox/flox ;nestin- Cre , and found t...

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Literature Corpus work: fa8f4943-a2fa-58e7-9ea8-8c3201d03918
DOI: 10.1101/2024.05.29.596535

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