Navigation Links
A mouse model brings new perspectives on Lafora disease
Date:12/12/2011

Short-term energy storage in animal cells is usually achieved through the accumulation of glucose, in the form of long and branched chains, known as glycogen. But when this accumulation happens in neurons it is fatal, causing them to degenerate. This neuronal deterioration and death associated with glycogen accumulation is the hallmark of an extremely rare and progressive type of epilepsy known as Lafora disease (LD).

The journal EMBO Molecular Medicine has just published online the new insights into LD provided by a team of Spanish researchers headed by Joan J. Guinovart, director of the IRB Barcelona and Professor at the University of Barcelona (UB), in collaboration with Agns Gruart and Jos M. Delgado at the Division of Neurosciences at the Pablo Olavide University in Seville, and Eduardo Soriano, Professor at the UB and researcher at IRB Barcelona.

LD is a fatal, inherited and progressive form of epilepsy that causes irreversible neurodegeneration and for which no cure or effective treatment is available. Onset typically occurs during late childhood or adolescence, generally starting with epileptic seizures, progressing into deterioration of neurological functions. One of the hallmarks of the disease is the abnormal accumulation of glycogen aggregates, known as Lafora bodies (LB), in neurons. In these cells, two genes, malin and laforin, act in unison to block glycogen storage in normal conditions. Mutations changes in DNA in either laforin or malin genes are responsible for this disease.

The group of researchers led by Guinovart has developed a genetically engineered mice line lacking the malin gene, thus mimicking human LD in this animal model. The results obtained confirm the role of the malin-laforin complex in the regulation of glycogen synthesis in neurons. Jordi Duran, first author of the study together with Jordi Valls, explains, "Brain cells control their glycogen levels carefully by employing a 'team of wardens
'/>"/>

Contact: Nuria Noriega
34-934-037-255
Institute for Research in Biomedicine (IRB Barcelona)
Source:Eurekalert

Page: 1 2

Related biology technology :

1. ExonHit Launches Mouse Genome SpliceArray(TM) for use in Human Disease Modeling Studies
2. Mouse study reveals genetic component of empathy
3. febit First to Offer Newly Published Mouse Genome on a Chip for DNA/RNA Detection and Enrichment
4. EnVivo Pharmaceuticals Announces Reversal of Cognitive Deficits in Alzheimers Disease Transgenic Mouse Model With Gamma-Secretase Modulator
5. ALPCO Introduces a Mouse HMW and Total Adiponectin ELISA
6. MD Bioproducts Releases a New Mouse T1/ST2 ELISA
7. Crescendo Biologics Announces First Triple Knockout Mouse
8. A knockout resource for mouse genetics
9. Researchers produce detailed map of gene activity in mouse brain
10. Campbell Alliance Sales Practice to Present at CBIs Leadership Summit on Evolving the Pharma Sales Model
11. Repligen Announces Publication of Positive Results with Proprietary HDAC Inhibitor in Huntingtons Disease Model
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/30/2014)... 2014  AtheroNova Inc. (OTCBB: AHRO), a biotech ... compounds to safely regress atherosclerotic plaque and improve ... partner, CardioNova, has accomplished first dosing of subjects ... lead compound, AHRO-001.  This Phase 1b trial will ... safety trial completed in February 2014, in which ...
(Date:7/30/2014)... 30, 2014 NCERC at Southern ... present his findings on corn stover pretreatment methods ... week in Washington, D.C. , “Arun’s selection ... is a testament to the success of our ... “Thanks to the foresight and vision of SIUE ...
(Date:7/30/2014)... July 30, 2014 Vala Sciences ... U.S. Environmental Protection Agency (EPA). This new contract ... toxicity models, including tests designed to assess the ... the formation of connections between neurons (synapses), which ... and synapse formation by environmental pollutants likely contributes ...
(Date:7/30/2014)... July 30, 2014 Immunology ... leading Immunologists, Principle Investigators, scientists in the field, ... Malemud, Professor at Case Western Reserve University School ... keynote address on “The effects of recombinant ... of matrix metalloproteinase-9”. Arya Biragyn, a Senior investigator ...
Breaking Biology Technology:AtheroNova Announces Milestone with Initiation of Phase 1b Clinical Trial of AHRO-001 2AtheroNova Announces Milestone with Initiation of Phase 1b Clinical Trial of AHRO-001 3AtheroNova Announces Milestone with Initiation of Phase 1b Clinical Trial of AHRO-001 4NCERC at SIUE Researcher Takes Stage at Department of Energy Conference 2NCERC at SIUE Researcher Takes Stage at Department of Energy Conference 3U.S. Environmental Protection Agency (EPA) Awards Vala Sciences a Second ToxCast Contract 2U.S. Environmental Protection Agency (EPA) Awards Vala Sciences a Second ToxCast Contract 3Unveiling Breakthroughs in Clinical & Cellular Immunology 2Unveiling Breakthroughs in Clinical & Cellular Immunology 3
... ... ... Therapeutic Proteins Inc. (TPI) today announced the completion of the nation’s first independent, ... Administration (FDA) requirements. The Chicago facility is located at University Technology Park at ...
... ... and Existing Partnerships , ... April 21, 2010 -- HealthTalker , the leader in word of mouth (WOM) marketing ... Core Leadership Team as the Senior Director of Strategic Partnerships. , , , ...
... situations, a split second can make the difference between ... of new "smart sensors" that allow for faster response ... new research from NC State that will help ensure ... those faced in Afghanistan or elsewhere. "We,ve taken ...
Cached Biology Technology:Therapeutic Proteins Inc. Completes First Independent, Dedicated Biosimilars Manufacturing Facility in U.S. 2Therapeutic Proteins Inc. Completes First Independent, Dedicated Biosimilars Manufacturing Facility in U.S. 3Therapeutic Proteins Inc. Completes First Independent, Dedicated Biosimilars Manufacturing Facility in U.S. 4HealthTalker Adds Industry Expert Collie Turner to Its Executive Team 2
(Date:7/30/2014)... , July 30, 2014 ... Global Government Biometric Systems Market 2014-2024   Business ... The Global Biometric Systems Market 2014-2024" offers the ... market over the next ten years, alongside potential ... market size forecasts. To view the ...
(Date:7/30/2014)... an across-the-board increase in Impact Factors for its ... Citation Reports (Thomson Reuters, 2014) show that ... Essays in Biochemistry , Biochemical Society Transactions ... increases in their Impact Factors. The journals are ... Portland Press Limited. , 2014 Impact Factors (2013 ...
(Date:7/30/2014)... massive collection of 20-million-year-old amber found in the Dominican ... is yielding fresh insights into ancient tropical insects and ... fully curated, a task that will take many years, ... in the world, the researchers report. , Perhaps ... a pygmy locust, a tiny grasshopper the size of ...
Breaking Biology News(10 mins):Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 2Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 3Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 4Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 5Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 6Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 7Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 8Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 9Global Government Biometric Systems Market Size, Share, Trends and Forecasts 2014-2024 Available Online by Researchmoz.us 10Across-the-board Impact Factor increases for Portland Press Limited 2Decades-old amber collection offers new views of a lost world 2
... The National Science Foundation (NSF) today announced Science ... collaboration among scientists and educators around the globe ... common interests and goals, SAVI can better leverage ... society,s most vexing problems. Building on beneficial ...
... distribution models for revealing the response of animals ... the endangered marsupial, the Northern Bettong. The research, ... weather events, rather than the gradual changes of ... Bettong,s movements, range boundaries and likely contact with ...
... tropical parasitic disease that can lead to life-threatening heart ... than previously thought, according to research from The University ... for four years now, and this year the number ... professor of integrative biology and philosophy at The University ...
Cached Biology News:Virtual institutes to support the scientific collaborations of the future 2Virtual institutes to support the scientific collaborations of the future 3Australia's endangered bettong reveals how weather effects species distribution 2Chagas disease may be a threat in South Texas, says researcher 2
... The thermostable dUTPase(pyrococcus fruriosus) maximizes the ... DNA polymerases). It removes contaminating ... dNTP solutions. The presence of ... reaction can prevent dUTP misincorporation by ...
... the D-2000, but comes with a shutter (controlled ... The D-2000 Deuterium Light Source produces a ... deep-UV versions of the light source are available, ... powerful and stable lamp provides peak-to-peak stability of ...
... product for cell-based kinetic assays and research ... of expensive HTS equipment, which lead to ... development stage. The NOVOstar offers the right ... as any other assay suitable for the ...
... The kit measures mitochondria intactness ... mitochondrial membrane potential. Features and Benefits: ... method for staining isolated mitochondria and ... Contains all the reagents required for ...
Biology Products: