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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Detalles Bibliográficos
Autores principales: Vergarajauregui, Silvia, Connelly, Patricia S., Daniels, Mathew P., Puertollano, Rosa
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Articles
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

Internet

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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