A team coordinated by Antoine Triller, Inserm Research Director, Director of the Institute of Biology at the École Normale Supérieure, and Ronald Melki, CNRS Research Director (Paris-Saclay Institute of Neuroscience), has just identified the target of an alpha-synuclein protein, which is pathogenic in Parkinson’s disease. This target is an ATP-dependent sodium/potassium pump. It may potentially […]
Infertility affects between 7% and 12% of couples worldwide. The causes of male infertility include several defects of the sperm including asthenozoospermia. This is a deficiency in the motility of spermatozoa, an essential ingredient for an encounter between the sexual cells during reproduction. Asthenozoospermia, detected in more than 40% of infertile men, is often associated […]
The team headed by Claude Férec, director of INSERM 1078 “Genetics, functional genomics and biotechnologies” (INSERM/Université de Bretagne/EFS) in Brest, published results in the Journal of the American Society of Nephrology from a cohort of 700 patients suffering from Autosomal Dominant Polycystic Kidney Disease (ADPKD). This condition, the most frequent monogenetic hereditary kidney disease, manifests through […]
Friedreich’s ataxia is a rare, serious and developing neurodegenerative condition that emerges at adolescence. Those affected suffer from difficulties in coordinating voluntary movements (ataxia). This is the commonest of the hereditary ataxias of genetic origin and occurs due to a mutation of the fraxatin gene which causes a protein deficiency. The team headed by Alexandra […]
Researchers from the Institut Pasteur, the Institut de la Vision, Inserm and the Université Pierre et Marie Curie have shed light on the origin of blindness that occurs in Usher I (the most common cause of deafness-blindness in humans). The scientists also demonstrated why the rat, the only animal model available today for this illness, […]