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Article

Autophagic dysfunction in mucolipidosis type IV patients

11 Jun 2008

Abstract excerpt

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 pathway; however, the mechanisms by which defects of MCOLN1 function result in mental and psychomotor retardation...

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PMID: 18550655
DOI: 10.1093/hmg/ddn174

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