Article
A yeast model system for functional analysis of the Niemann-Pick type C protein 1 homolog, Ncr1p.
Traffic (Copenhagen, Denmark) - 1 Oct 2005
Berger Adam C, Hanson Pamela K, Wylie Nichols J, Corbett Anita H
Abstract excerpt
Niemann-Pick disease type C (NP-C) is a progressive, ultimately fatal, autosomal recessive neurodegenerative disorder. The major biochemical hallmark of the disease is the endocytic accumulation of low-density lipoprotein-derived cholesterol. The majority of NP-C patients have mutations in the Niemann-Pick type C1 gene, NPC1. This study focuses on the Saccharomyces cerevisiae homolog of the human NPC1 protein...
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