Document Detail

Complementation studies in human and feline Niemann-Pick type C disease.
MedLine Citation:
PMID:  10068514     Owner:  NLM     Status:  MEDLINE    
Complementation studies were performed to determine if the gene responsible for the major form of human Niemann-Pick type C disease (NPC) and a feline model of NPC are orthologous. Cell fusions between human NPC and feline NPC fibroblasts were conducted to assess whether the multinucleated heterokaryons that were formed showed a reversal of the NPC phenotype. Cultured fibroblasts from NPC-affected humans and NPC-affected cats were hybridized and then analyzed for complementation by challenging the cells with low-density lipoprotein (LDL) and subsequently staining with the fluorescent antibiotic filipin to visualize any abnormal accumulation of unesterified cholesterol. All of the multinucleated cells formed from these fusions retained the NPC staining phenotype, indicating an absence of complementation and suggesting that the underlying defect in the major form of human NPC and this feline model of NPC involve orthologous genes.
K L Somers; D A Wenger; M A Royals; E D Carstea; H E Connally; T Kelly; R Kimball; M A Thrall
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  66     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  1999 Feb 
Date Detail:
Created Date:  1999-04-13     Completed Date:  1999-04-13     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  117-21     Citation Subset:  IM    
Copyright Information:
Copyright 1999 Academic Press.
Department of Pathology, Colorado State University, Fort Collins, Colorado, 80523, USA.
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MeSH Terms
Cat Diseases / genetics*
Cell Fusion
Cell Line
Cell Nucleus / pathology
Fibroblasts / pathology
Genetic Complementation Test*
Niemann-Pick Diseases / genetics*,  veterinary*
Grant Support

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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