R
Raymond R. O'Neill
Researcher at National Institutes of Health
Publications - 18
Citations - 2012
Raymond R. O'Neill is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Focal motor seizures & Gene. The author has an hindex of 11, co-authored 18 publications receiving 1917 citations.
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Journal ArticleDOI
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Eugene D. Carstea,Jill A. Morris,Katherine G. Coleman,Stacie K. Loftus,Dana Zhang,Christiano Cummings,Jessie Z. Gu,Melissa A. Rosenfeld,William J. Pavan,David B. Krizman,James W. Nagle,M H Polymeropoulos,Stephen L. Sturley,Yiannis A. Ioannou,Maureen E. Higgins,Marcella E. Comly,Adele Cooney,Anthony Brown,Christine R. Kaneski,E. Joan Blanchette-Mackie,Nancy K. Dwyer,Edward B. Neufeld,Ta-Yuan Chang,Laura Liscum,Jerome F. Strauss,Kousaku Ohno,Marsha Zeigler,Rivka Carmi,J Sokol,David Markie,Raymond R. O'Neill,O. P. van Diggelen,Milan Elleder,Marc C. Patterson,Roscoe O. Brady,Marie T. Vanier,Peter G. Pentchev,Danilo A. Tagle +37 more
TL;DR: Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.
Journal ArticleDOI
Progesterone blocks cholesterol translocation from lysosomes.
J D Butler,Joan Blanchette-Mackie,Ehud Goldin,Raymond R. O'Neill,G Carstea,Calvin F. Roff,Marc C. Patterson,S Patel,M E Comly,Adele Cooney +9 more
TL;DR: The progesterone-related inhibition and restoration of lysosomal cholesterol trafficking is a useful experimental means of studying intracellular cholesterol transport and a particularly important feature of its utility is the facile reversibility of the steroid-induced block.
Journal ArticleDOI
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.
Journal ArticleDOI
Local cerebral glucose utilization in newborn and pubescent monkeys during focal motor seizures.
Motohiro Kato,Barbara L. Malamut,William F. Caveness,Shnichi Hosokawa,Shnichiro Wakisaka,Raymond R. O'Neill +5 more
TL;DR: In general, newborn brain was capable of supporting a focal motro seizure but lacked the precise clinical and electrographic expressions or efficient energy metabolism that accopany maturation of the brain at puberty.
Journal ArticleDOI
Propagation of focal motor seizures in the pubescent monkey
William F. Caveness,Mothohiro Kato,Barbara L. Malamut,Shnichi Hosokawa,Shinichiro Wakisaka,Raymond R. O'Neill +5 more
TL;DR: Glucose utilization increased significantly, primarily unilaterally, with propagation and was greatest in the sensory and motor cerebral cortices, putamen, and globus pallidus, and was least in the cerebellar cortex.