Dravet syndrome (DS), or severe myoclonic epilepsy of infancy, is a rare form of epilepsy affecting less than one in 10,000 people in the United States. However, in affected children, the condition can delay normal development and affect lifelong outcomes. Like many rare diseases, Dravet syndrome still has no cure, but a study recently published in the Journal of Clinical … Continue reading Defending against Dravet
Histone post-translational modifications control several fundamental processes on DNA, but very few phosphorylations are known. Here, Fisher, Krasinska and colleagues describe a new phosphorylation of Serine-57 of histone H3, on the globular core. They demonstrate its conservation from yeast to mammals, identify the DNA damage response kinase CHK1 as the major writer in human cells, and show that it loosens … Continue reading Controlling the nucleosome by phosphorylation for DNA repair
The team of JC Andrau team has characterized at the genomic scale that a CTD-depleted RNA Polymerase II can still transcribe but cannot terminate transcription anymore. This results in a massive read-through phenotype, over hundreds of kb, at both ends of transcriptional units. Further on, without CTD, Pol II loses its interaction with both Mediator and Integrator complexes that most … Continue reading Transcription that (almost) never ends
The collaboration between several teams from AP-HP, l’IGMM Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier) and Metafora-Biosystems is a success: for the first time, a diagnostic test, METAglut1, has received a positive decision from Haute Autorité de Santé permitting the reimbursement of its costs by health insurance companies. METAglut1, a fast, reliable blood test, provides an early diagnosis … Continue reading TAKING CHARGE OF THE METAglut1 BLOOD TEST FOR THE DIAGNOSIS OF DE VIVO DISEASE
