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The loss of C9ORF72 partially alters macroautophagy but doesn’t cause neuronal cell death. In contrast, decreasing expression of C9ORF72 increases the aggregation and toxicity of Ataxin-2 containing polyglutamine repeats. The number of polyglutamine in ATXN2 gene is a genetic modifier known in ALS.
April 21, 2016
The team of Nicolas Charlet-Berguerand at the IGBMC in collaboration with the team of Edor Kabashi at the Institute for Brain and Spinal Cord Disorders (ICM) in Paris have set light a new pathogenic mechanism in Amyotrophic lateral sclerosis. These results were published in the journal EMBO, April 21th 2016.
Picture of the endocardial cells of zebrafish heart after photoconversion(1) of the ventricle of the heart. The ventricle which is photoconverted appears in mauve while the atrium, which is not photoconverted, appears in green. This approach allowed the researchers to address cellular mechanisms associated with the formation of the heart valves.
(1) Photoconversion: the conversion of a substance from one form to another by using the energy supplied by light.
May 25, 2016
The team of Julien Vermot is working on the mechanisms that regulate the formation of the heart valves. The researchers were able to show how heart valves are formed in response to changes in the extracellular matrix that is mediated by mechanical forces exerted by the heart muscle contractions. The researchers hope this discovery will help to better understand how to grow the heart valves in vitro. These results have been published on May 25, 2016 in the journal Nature Communications.
Alternative splicing model of the cardiac sodium channel (SCN5A) in a myotonic dystrophy.
April 11, 2016
The team of Nicolas Charlet-Berguerand (CNRS, Inserm and University of Strasbourg) part of an international collaboration (France, Germany, USA and Japan) lift the veil on the molecular mechanisms behind heart defects in the genetic disease, myotonic dystrophy. An illness that affects a person over 8 000. This new study published in Nature Communications on April 11 2016 could help find a treatment.