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A murine model of infantile neuronal ceroid lipofuscinosis – Ultrastructural evaluation of storage in the central nervous system and viscera
Infantile neuronal ceroid lipofuscinosis (INCL), also known as Santavuori-Haltia disease, is an inherited neurodegenerative disorder caused by a mutation in the gene encoding the lysosomal enzyme palmitoyl-protein-thioesterase-1 (PPT1). Fatty acid-modified proteins are not degraded and accumulate as...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2789460/ https://ncbi.nlm.nih.gov/pubmed/17990914 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2350/07-03-0242.1 |
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