Ataxia and progressive myoclonic epilepsy associated with reduced ceramide synthase 1 (CERS1)
Background: Ceramides and their sphingolipid have a wide range of biological functions. Ceramide synthase 1 (CERS1) catalyzes the synthesis of C18 ceramide and is mainly expressed in the brain. Alterations of sphingolipid metabolism are involved in the patho genesis of many neurodegenerative disorde...
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| Principais autores: | , , , , , , , , |
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| Formato: | article |
| Idioma: | pt_BR |
| Publicado em: |
Journal Of The Neurological Sciences
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| Assuntos: | |
| Endereço do item: | https://repositorio.ufrn.br/handle/123456789/52560 |
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