Niemann-Pick type C fibroblast analysis
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Jon Reddy
PROVIDER: E-GEOD-8770 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling.
Reddy Jonathan V JV Ganley Ian G IG Pfeffer Suzanne R SR
PloS one 20061220
<h4>Background</h4>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.<h4>Methodology/principal findings</h4>Using cDNA microarrays, we analyzed the genome-wide expression patterns of human fibroblasts homozygous for the I1061T NPC1 mutation that is character ...[more]
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