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Clues to Neuro-Degeneration in Niemann-Pick Type C Disease from Global Gene Expression Profiling

20 Dec 2006

Abstract excerpt

BACKGROUND: Niemann-Pick Type C (NPC) disease is a neurodegenerative disease that is characterized by the accumulation of cholesterol and glycosphingolipids in the late endocytic pathway. The majority of NPC cases are due to mutations in the NPC1 gene. The precise function of this gene is not yet known. METHODOLOGY/PRINCIPAL FINDINGS: Using cDNA microarrays, we analyzed the genome-wide expression patterns of...

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PMID: 17183645
DOI: 10.1371/journal.pone.0000019

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