Search Results - "Carstea, Eugene D"

DNA mapping using microfluidic stretching and single-molecule detection of fluorescent site-specific tags by Chan, Eugene Y, Goncalves, Nuno M, Haeusler, Rebecca A, Hatch, Amie J, Larson, Jonathan W, Maletta, Anthony M, Yantz, Gregory R, Carstea, Eugene D, Fuchs, Martin, Wong, Gordon G, Gullans, Steven R, Gilmanshin, Rudolf

“…We have developed a rapid molecular mapping technology--Direct Linear Analysis (DLA)--on the basis of the analysis of individual DNA molecules bound with…”
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Mutagenesis of the Putative Sterol-Sensing Domain of Yeast Niemann Pick C-Related Protein Reveals a Primordial Role in Subcellular Sphingolipid Distribution by Malathi, Krishnamurthy, Higaki, Katsumi, Tinkelenberg, Arthur H., Balderes, Dina A., Almanzar-Paramio, Dorca, Wilcox, Lisa J., Erdeniz, Naz, Redican, Francis, Padamsee, Mahajabeen, Liu, Ying, Khan, Sohail, Alcantara, Frederick, Carstea, Eugene D., Morris, Jill A., Sturley, Stephen L.

“…Lipid movement between organelles is a critical component of eukaryotic membrane homeostasis. Niemann Pick type C (NP-C) disease is a fatal neurodegenerative…”
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Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene by Loftus, Stacie K., Morris, Jill A., Carstea, Eugene D., Gu, Jessie Z., Cummings, Christiano, Brown, Anthony, Ellison, Jane, Ohno, Kousaku, Rosenfeld, Melissa A., Tagle, Danilo A., Pentchev, Peter G., Pavan, William J.

“…An integrated human-mouse positional candidate approach was used to identify the gene responsible for the phenotypes observed in a mouse model of Niemann-Pick…”
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Common effect of antipsychotics on the biosynthesis and regulation of fatty acids and cholesterol supports a key role of lipid homeostasis in schizophrenia by Polymeropoulos, Mihael H, Licamele, Louis, Volpi, Simona, Mack, Kendra, Mitkus, Shruti N, Carstea, Eugene D, Getoor, Lise, Thompson, Andrew, Lavedan, Christian

“…Abstract For decades, the dopamine hypothesis has gained the most attention in an attempt to explain the origin and the symptoms of schizophrenia. While this…”
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The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo by Neufeld, E B, Wastney, M, Patel, S, Suresh, S, Cooney, A M, Dwyer, N K, Roff, C F, Ohno, K, Morris, J A, Carstea, E D, Incardona, J P, Strauss, 3rd, J F, Vanier, M T, Patterson, M C, Brady, R O, Pentchev, P G, Blanchette-Mackie, E J

“…Niemann-Pick C disease (NP-C) is a neurovisceral lysosomal storage disorder. A variety of studies have highlighted defective sterol trafficking from lysosomes…”
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Substantial Narrowing of the Niemann-Pick C Candidate Interval by Yeast Artificial Chromosome Complementation by Gu, Jessie Z., Carstea, Eugene D., Cummings, Christiano, Morris, Jill A., Loftus, Stacie K., Zhang, Dana, Coleman, Katherine G., Cooney, Adele M., Comly, Marcy E., Fandino, Laura, Roff, Calvin, Tagle, Danilo A., Pavan, William J., Pentchev, Peter G., Rosenfeld, Melissa A.

“…Niemann-Pick disease type C (NP-C) is an autosomal recessive lipidosis linked to chromosome 18q11-12, characterized by lysosomal accumulation of unesterified…”
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Mutation analysis of feline Niemann–Pick C1 disease by Somers, Kyra L, Royals, Michael A, Carstea, Eugene D, Rafi, Mohammad A, Wenger, David A, Thrall, Mary Anna

“…Niemann–Pick C (NPC) disease is an autosomal recessive neurovisceral lysosomal storage disorder that results in defective intracellular transport of…”
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State-of-the-art modified RNAi compounds for therapeutics by Carstea, Eugene D, Hough, Shelley, Wiederholt, Kristin, Welch, Peter J

“…In recent years, the recognition of non-protein coding RNAs as a functional effector of genetic expression has been highlighted by the discovery of RNA…”
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Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis by Carstea, Eugene D., Morris, Jill A., Coleman, Katherine G., Loftus, Stacie K., Zhang, Dana, Cummings, Christiano, Gu, Jessie, Rosenfeld, Melissa A., Pavan, William J., Krizman, David B., Nagle, James, Polymeropoulos, Mihail H., Sturley, Stephen L., Ioannou, Yiannis A., Higgins, Maureen E., Comly, Marcella, Cooney, Adele, Brown, Anthony, Kaneski, Christine R., Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Neufeld, Edward B., Chang, Ta-Yuan, Liscum, Laura, Strauss, Jerome F., Ohno, Kousaku, Zeigler, Marsha, Carmi, Rivka, Sokol, Jacob, Markie, David, O'Neill, Raymond R., van Diggelen, O. P., Elleder, Milan, Patterson, Marc C., Brady, Roscoe O., Vanier, Marie T., Pentchev, Peter G., Tagle, Danilo A.

“…Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)-derived…”
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Niemann–Pick C disease: cholesterol handling gone awry by Morris, Jill A, Carstea, Eugene D

“…Niemann–Pick C disease (NPC) is a debilitating, recessive disorder in humans that causes unrelenting neurological deterioration and is complicated by the…”
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Neurofibrillary tangles in Niemann-Pick disease type C by SUZUKI, K, PARKER, C. C, PENTCHEV, P. G, KATZ, D, GHETTI, B, D'AGOSTINO, A. N, CARSTEA, E. D

“…Niemann-Pick disease type C (NPC) is an autosomal recessive disease, belonging to a clinically heterogeneous group of lipid storage diseases, distinguished by…”
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The Genomic Organization and Polymorphism Analysis of the Human Niemann-Pick C1 Gene by Morris, Jill A., Zhang, Dana, Coleman, Katherine G., Nagle, James, Pentchev, Peter G., Carstea, Eugene D.

“…Niemann-Pick C (NP-C) is a fatal autosomal recessive storage disorder characterized by progressive neurodegeneration and variable hepatosplenomegaly. At the…”
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The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol by Pentchev, P G, Brady, R O, Blanchette-Mackie, E J, Vanier, M T, Carstea, E D, Parker, C C, Goldin, E, Roff, C F

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Linkage of Niemann-Pick Disease Type C to Human Chromosome 18 by Carstea, Eugene D., Polymeropoulos, Michael H., Parker, Colette C., Detera-Wadleigh, Sevilla D., O'Neill, Raymond R., Paterson, Marc C., Goldin, Ehud, Xiao, Hong, Straub, Richard E., Vanier, Marie T., Brady, Roscoe O., Pentchev, Peter G.

“…We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected…”
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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 by Shamburek, R D, Pentchev, P G, Zech, L A, Blanchette-Mackie, J, Carstea, E D, VandenBroek, J M, Cooper, P S, Neufeld, E B, Phair, R D, Brewer, Jr, H B, Brady, R O, Schwartz, C C

“…Niemann-Pick C disease (NP-C) is a rare inborn error of metabolism with hepatic involvement and neurological sequelae that usually manifest in childhood…”
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Linkage of Neimann-Pick disease type C to human chromosome 18 by Carstea, Eugene D, Polymeropoulos, Mihael H, Parker, Colette C, Detera-Wadleigh, Sevilla D

“…The involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder, was analyzed. The results…”
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Molecular and functional characterization of the murine glucocerebrosidase gene by Carstea, E D, Murray, G J, O'Neill, R R

“…A genomic clone of glucocerebrosidase (D-glucosyl-N-acyl-sphingosine glucohydrolase; E.C. 3.2.1.45) purified from a genomic library derived from a Balb/c mouse…”
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Analogues of butyric acid that increase the expression of transfected DNAs by Carstea, E D, Miller, S P, Christakis, H, O'Neill, R R

“…Butyric acid has many strong effects on gene expression in mammalian and viral systems, as well as in increasing the expression of recombinant DNAs…”
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