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Autophagic dysfunction in mucolipidosis type IV patients
Mutations in Mucolipin 1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a lysosomal storage disease characterized by several neurological and ophthalmological abnormalities. It has been proposed that MCOLN1 might regulate transport of membrane components in the late endosomal–lysosomal p...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2515373/ https://ncbi.nlm.nih.gov/pubmed/18550655 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn174 |
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