Navigation Links
Angelman syndrome deficits rescued in mice

Children with Angelman syndrome are often seen laughing and smiling, but this cheerful demeanor masks serious neurological problems ?mental retardation, movement problems and seizures.


ew research in mice, however, suggests that many of these deficits could be alleviated.

Edwin Weeber, Ph.D., and colleagues reversed the neurological deficits in a mouse model of Angelman syndrome by preventing the inhibition of CaMKII, an enzyme highly expressed in brain regions affected by Angelman syndrome.

The results, which appear in the March issue of Nature Neuroscience (currently available online), reveal an important part of the mechanism underlying the condition and point to potential therapeutic targets for treating these symptoms.

Angelman syndrome, which affects approximately one in 15,000 children, is a debilitating neurological disorder characterized by mental retardation, severely limited speech, and movement and balance problems.

In 1997, researchers determined that Angelman syndrome was caused by a mutation in a single gene, called UBE3A. They subsequently developed a mouse model of Angelman syndrome by mutating this gene.

But the finding was baffling, said Weeber, because UBE3A is a "housekeeping" gene, meaning that it broadly regulates cellular processes not particularly specific for any of the neurological deficits seen in these children. Specifically, the protein encoded by UBE3A "tags" other proteins for degradation by the cellular "garbage disposal," the proteasome.

"The most difficult thing to rationalize was that this housekeeping gene ?which nobody thought did anything ?caused severe mental retardation," said Weeber, an assistant professor of Molecular Physiology and Biophysics and Pharmacology and senior author on the study.

"So we started trying to identify some of the protein's molecular targets."

In the process, Weeber and colleagues identified an abnormality i
'"/>

Source:Vanderbilt University Medical Center


Page: 1 2 3

Related biology news :

1. 15-year hunt finds cause of pseudothalidomide syndrome
2. Gene for immune deficiency syndromes found
3. Removing DNA repair gene causes metabolic syndrome
4. Congenital rubella syndrome nearly eradicated in the US
5. Researchers link two more genes to sudden infant death syndrome
6. Down syndrome: Its not just the age factor
7. A potential biological cause for sudden infant death syndrome
8. Drug treatment improves learning in mice with Down syndrome symptoms, Stanford/Packard study shows
9. Chronic fatigue syndrome impairs a persons slow wave activity during sleep
10. Experimental drug reverses key cognitive deficits, pathology in Alzheimers
11. Mayo Clinic study suggests that a central nervous system viral infection can lead to memory deficits
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Angelman syndrome deficits rescued mice

(Date:12/17/2014)...  Automation is fundamentally transforming the travel experience ... international borders. Over the past decade, ePassports, biometric ... travelers to self process through border control via ... an increasing number of airports, seaports, and land ... to Maxine Most , Principal at Acuity ...
(Date:12/11/2014)... WINSTON SALEM, N.C. , Dec. 10, 2014  That ... known for quite a while. Hypertension – the medical term ... disease in the early 1800s, and the inflatable cuff that,s ... That doesn,t, however, mean there,s nothing new about hypertension, ... punctured some long-held beliefs about the condition and the best ...
(Date:12/10/2014)... Forest Baptist Medical Center today announced plans for a ... Funding for this $50 million capital project is part ... launched next summer. The medical education ... R.J. Reynolds Tobacco Company complex, adjacent to 525@vine in ... plans to be ready to welcome medical students in ...
Breaking Biology News(10 mins):Automated Border Control (ABC) Transforms the Global Travel Experience With More Than 2500 ABC eGates and APC Kiosks Deployed In Airports, Seaports, and Land Borders Worldwide 2Research points to need for new approaches to treatment of high blood pressure 2Research points to need for new approaches to treatment of high blood pressure 3Research points to need for new approaches to treatment of high blood pressure 4Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 2Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 3Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 4
... the University of California, San Diego (UCSD) Skaggs School ... for developing a human vaccine to prevent against Human ... a type of herpes virus, is the leading viral ... patients with compromised immune systems. The body’s natural ...
... the first time anywhere, a researcher at the Hebrew University ... of neurons in the brain of a mammal. , ... Alexander Silberman Institute of Life Sciences at the Hebrew University, ... develop from an undifferentiated cellular sphere into a rich and ...
... lethal toxin is revealed today. This toxin is the one real ... kg — the weight of two bags of sugar — is ... of the same toxin are used in medical treatments, one of ... C. botulinum doesn’t have subtle tools to evade our human defences ...
Cached Biology News:New vaccine prevents CMV infection and disease in mice 2New vaccine prevents CMV infection and disease in mice 3A first -- Hebrew University scientist observes brain cell development in 'real time' 2Genome of Clostridium botulinum reveals the background to world's deadliest toxin 2Genome of Clostridium botulinum reveals the background to world's deadliest toxin 3
(Date:12/19/2014)... -- Naurex Inc., a biopharmaceutical company leveraging its unique ... central nervous system, today announced that Norbert Riedel ... at the 33 rd annual J.P. Morgan Healthcare ... p.m. PST on Tuesday, January 13, 2015, at the ... About Naurex Inc. ...
(Date:12/19/2014)... 18, 2014 BioPlus Specialty ... specialty pharmacies, has an expanded team of Regional ... consultants for prescriber offices in their regions, with ... “We have a variety of Regional Pharmaceutical Care ... specializing in hepatitis C help prescribers understand all ...
(Date:12/19/2014)... December 18, 2014 iLab Solutions, the ... appointment of Siri Bryant as the new Director of ... of Core Implementations. These two new leadership positions were ... service by ensuring that iLab continues to meet the ... last four years, iLab has been deployed at over ...
(Date:12/19/2014)... , Dec. 18, 2014 Egenix, Inc. is pleased ... elected Chairman of the Board, to succeed Donald Fresne ... but will continue as a member of the Board.  In ... added to the company over almost twenty years, the Board ... Board of Directors has established a Search Committee to find ...
Breaking Biology Technology:Naurex to Present at 33rd Annual J.P. Morgan Healthcare Conference 2BioPlus Specialty Pharmacy Expands ‘Regional Pharmaceutical Care Liaison’ Team 2BioPlus Specialty Pharmacy Expands ‘Regional Pharmaceutical Care Liaison’ Team 3iLab Solutions Announces Two New Leadership Positions to Meet the Needs of Its Growing Customer Base 2
... Oct. 23 Amylin Pharmaceuticals,Inc. (Nasdaq: AMLN ) ... Diego on Tuesday, October 28, 2008 at 10:30 a.m. ... and Chief Financial Officer, will,be providing a corporate overview., ... a recording will be made,available following the event. The ...
... Sciences,Holdings, Inc. (Nasdaq: ADLS ) a biopharmaceutical company ... in the,therapeutic areas of infection, cancer and respiratory diseases, ... Bank to increase,its line of credit from $4 million ... by 12 months to January 1, 2011. The closing ...
... Oct. 23 Anadys Pharmaceuticals,Inc. (Nasdaq: ANDS ... care by developing novel medicines in the areas ... results and,highlights for the third quarter ended September ... progress in both of our hepatitis C,development programs," ...
Cached Biology Technology:Advanced Life Sciences Completes Debt Transaction 2Anadys Pharmaceuticals Reports Third Quarter 2008 Financial Results and Highlights 2Anadys Pharmaceuticals Reports Third Quarter 2008 Financial Results and Highlights 3Anadys Pharmaceuticals Reports Third Quarter 2008 Financial Results and Highlights 4Anadys Pharmaceuticals Reports Third Quarter 2008 Financial Results and Highlights 5Anadys Pharmaceuticals Reports Third Quarter 2008 Financial Results and Highlights 6Anadys Pharmaceuticals Reports Third Quarter 2008 Financial Results and Highlights 7Anadys Pharmaceuticals Reports Third Quarter 2008 Financial Results and Highlights 8
... This CLS number is a new ... product number. If showing no availability yet, ... (Z71,369-4) or contact customer service for assistance. ... Comp Dim: D H 100 ...
BD BioCoat BD MatrigelTM Matrix 100 mm Culture Dishes for hepatocytes, tissue-culture treated polystyrene with a uniform application of MATRIGEL Matrix....
...
... 5-OxoETE-d7 is used as an internal standard ... isotope dilution mass spectrometry. 5-OxoETE is a ... of 5-HETE in human neutrophils. It stimulates ... EC50 of 2 nM. 5-OxoETE selectively stimulates ...
Biology Products: