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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...
Autores principales: | Vergarajauregui, Silvia, Connelly, Patricia S., Daniels, Mathew P., Puertollano, Rosa |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2515373/ https://www.ncbi.nlm.nih.gov/pubmed/18550655 http://dx.doi.org/10.1093/hmg/ddn174 |
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