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Mitochondrial Aberrations in Mucolipidosis Type IV

21 Oct 2006

Abstract excerpt

Mucolipidosis type IV is a genetic lysosomal storage disease associated with degenerative processes in the brain, eye, and other tissues. Mucolipidosis type IV results from mutations in the gene MCOLN1, which codes for the TRP family ion channel, mucolipin 1. The connection between lysosomal dysfunction and degenerative processes in mucolipidosis type IV is unclear. Here we report that mucolipidosis type IV and...

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PMID: 17056595
DOI: 10.1074/jbc.m607982200

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