Eugene D. Carstea

Medicine · Health Sciences

17h-index4.1kcitations25works0.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(18), Carbohydrate Chemistry and Synthesis(7), Glycosylation and Glycoproteins Research(4), Cellular transport and secretion(3), RNA Interference and Gene Delivery(3)

Publications25 total

RNAi in Drug Development
2013
Common effect of antipsychotics on the biosynthesis and regulation of fatty acids and cholesterol supports a key role of lipid homeostasis in schizophrenia
Schizophrenia Research·2009· 83 cited
State-of-the-art modified RNAi compounds for therapeutics.
PubMed·2005· 18 cited
DNA Mapping Using Microfluidic Stretching and Single-Molecule Detection of Fluorescent Site-Specific Tags
Genome Research·2004· 162 citedOpen Access
Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C–related protein reveals a primordial role in subcellular sphingolipid distribution
The Journal of Cell Biology·2004· 142 citedOpen Access
Positional Cloning Utilizing Genomic DNA Microarrays: The Niemann–Pick Type C Gene as a Model System
Molecular Genetics and Metabolism·2000· 14 cited
The Genomic Organization and Polymorphism Analysis of the Human Niemann-Pick C1 Gene
Biochemical and Biophysical Research Communications·1999· 86 cited
The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo
Journal of Biological Chemistry·1999· 374 citedOpen Access
Complementation Studies in Human and Feline Niemann-Pick Type C Disease
Molecular Genetics and Metabolism·1999· 17 cited
Niemann–Pick C disease: cholesterol handling gone awry
Molecular Medicine Today·1998· 22 citedOpen Access
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
Journal of Lipid Research·1997· 40 citedOpen Access
Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
Science·1997· 1.5k cited
Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene
Science·1997· 804 cited
Substantial narrowing of the Niemann–Pick C candidate interval by yeast artificial chromosome complementation
Proceedings of the National Academy of Sciences·1997· 28 citedOpen Access
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.
PubMed·1996· 236 cited
Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease
Acta Neuropathologica·1995· 197 cited
Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease
Acta Neuropathologica·1995· 9 cited
Neurofibrillary tangles in Niemann-Pick disease type C
Acta Neuropathologica·1995· 184 cited
Neurofibrillary tangles in Niemann-Pick disease type C
Acta Neuropathologica·1995· 9 cited
Localizing the human Niemann-Pick C gene to 18q11-12
The American Journal of Human Genetics·1994· 4 cited
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Frequent Co-authors

Jill A. Morris(8), Peter G. Pentchev(8), Jessie Gu(4), P. G. Pentchev(4), Katherine Coleman(3), Stacie K. Loftus(3), Dana Zhang(3), Christiano Cummings(3), Melissa A. Rosenfeld(3), William J. Pavan(3), Adele Cooney(3), E. Joan Blanchette‐Mackie(3), Edward B. Neufeld(3), Kousaku Ohno(3), Marc C. Patterson(3), Danilo A. Tagle(3), Calvin F. Roff(3), James W. Nagle(2), Stephen L. Sturley(2), Anthony Brown(2)