E D Carstea
National Institutes of Health
10 Papers
150 Citations
E D Carstea is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Gene & Genomic library. The author has an hindex of 10, co-authored 10 publications.
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Papers
Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C–related protein reveals a primordial role in subcellular sphingolipid distribution
Krishnamurthy Malathi,Katsumi Higaki,Arthur H. Tinkelenberg,Dina A. Balderes,Dorca Almanzar-Paramio,Lisa Wilcox,Naz Erdeniz,Francis Redican,Mahajabeen Padamsee,Ying Liu,Sohail Khan,Frederick Alcantara,E D Carstea,Jill A. Morris,Stephen L. Sturley +14 more
TL;DR: It is proposed that the primordial function of these proteins is to recycle sphingolipids and that defects in this process in higher eukaryotes secondarily result in cholesterol accumulation.
Linkage of Niemann-Pick disease type C to human chromosome 18.
E D Carstea,M H Polymeropoulos,Colette C. Parker,Sevilla D. Detera-Wadleigh,Raymond R. O'Neill,M. C. Patterson,Ehud Goldin,Hua Xiao,Richard E. Straub,M T Vanier +9 more
TL;DR: Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.
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Mutation analysis of feline Niemann-Pick C1 disease.
TL;DR: Complementation studies using cultured fibroblasts from NPC affected cats and NPC1 affected humans support that the gene responsible for the NPC phenotype in this colony of cats is orthologous to human NPC1.
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Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation.
Robert D. Shamburek,Peter G. Pentchev,L A Zech,Joan Blanchette-Mackie,E D Carstea,J M VandenBroek,P S Cooper,Edward B. Neufeld,R D Phair,H B Brewer,Roscoe O. Brady,C C Schwartz +11 more
TL;DR: In vivo findings show that intracellular distribution of both newly synthesized and HDL-derived cholesterol are essentially unperturbed by the NP-C mutation, and therefore occur by lysosomal-independent paths.
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