A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

Article Abstract:

Results demonstrate that hypocretin neurotransmission plays a pivotal role in the etiology of human narcolepsy as evidenced by mutation screening of hypocretin loci and neuropathological analysis. Absence of normal hypocretins in narcolepsy patients and severe symptoms caused by mutations of the hypocretin peptides, orexins, indicate involvement of the hypocretins in the disorder.

author: Reynolds, David, Peyron, Christelle, Faraco, Juliette, Rogers, William, Ripley, Beth, Overeem, Sebastiaan, Charnay, Yves, Nevsimalova, Sona, Aldrich, Michael, Albin, Roger, Li, Robin, Hungs, Marcel, Pedrazzoli, Mario, Padigaru, Muralidhara, Kucherlapati, Melanie, Fan, Jun, Maki, Richard, Lammers, Gert Jan, Bouras, Constantin, Kucheralapati Raju, Nishino, Seiji, Mignot, Emmanuel
Netherlands, Switzerland, Czech Republic, Statistical Data Included, Analysis, Mutation (Biology), Mutation, Histology, Pathological, Pathological histology, Narcolepsy, Neuropeptides

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Direct brain infusion of glial cell line-derived neurotrophic factor in Parkinson disease

Article Abstract:

Research describes the delivery of the Glial cell line-derived neurotrophic factor into the putamen of Parkinson patients by chronic infusion using pumps. Results show a 39% improvement the motor sub-score of the Unified Parkinson's Disease Rating Scale, without medication, and a 61% improvement in the daily living activities. Furthermore, dyskinesias is reduced by 64%.

author: Brooks, David J., Heywood, Peter, Gill, Steven S., Patel, Nikunj K., Hotton, Gary R., O'Sullivan, Karen, McCarter, Renee, Bunnage, Martin, Svendsen, Clive N.
United Kingdom, Evaluation, Drug therapy, Motor ability, Motor skills, Neuroglia, Glia, Parkinson's disease, Parkinson disease, Movement disorders

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Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity

Article Abstract:

A new SHIP2 (SH2-domain containing inositol 5-phosphotase 2) knockout namely Inppl1(super -I-) targeted to translation-initiating ATG is described. The inhibition of SHIP2 can be useful in the effort to ameliorate diet-induced obesity.

author: Yancopoulos, George D., Wiegand, Stanley J., Sleeman, Mark W., Wortley, Katherine, E., Lai, Ka-man V., Gowen, Lori C., Kintner, Jennifer, Kline, William O., Garcia, Karen, Stitt, Trevor N., Glass, David J.
Science & research, Research, Genetic aspects, Obesity, Globulin, Globulins, Phosphotransferases

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subjects list: United States, Physiological aspects, Neurotransmitters
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