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Palmarès prix de thèse SBS : Prix de la Fondation Unistra 2017 Société de Biologie de Strasbourg : Patrick LAURETTE
Cross sections of muscles. Left the normal muscle fibers, in the middle those of a diseased mouse and on the right those of a diseased mouse overexpressing Bin1
March 20, 2019
After identifying amphiphysin 2 as a potential therapeutic target in some congenital myopathies, researchers in Jocelyn Laporte's team at the IGBMC (CNRS/Inserm/Université de Strasbourg) were able to specifically modulate the level of this molecule and to reduce all signs of a severe form of myopathy. These results, published on March 20, 2019, in the journal Science translational medicine, offer new therapeutic perspectives for these myopathies.
On the left, compact chromatin. On the right, decondensed chromatin following the interaction of mutated TFIIH with the GCN5 enzyme.
March 20, 2019
Patients with a combined form of xeroderma pigmentosum and Cockayne syndrome have a wide range of clinical characteristics, including photosensitivity of the skin, predisposition to cancer and developmental disorders. At the origin of this rare genetic disease, a mutation of a subunit of the gene encoding TFIIH that plays a key role both in gene transcription and in gene repair. By studying patients' cells, researchers from Frédéric Coin's team at the IGBMC (CNRS/Inserm/Unistra) showed that the interaction of the TFIIH complex with the GCN5 enzyme leads to an increase in the enzymatic activity of GCN5, resulting in an uncontrolled remodelling of the chromatin and an overexpression of a large number of genes that may cause certain symptoms in patients.These results are published on March 20, 2019 in the journal Nature Communication.