Virginie Carmignac

TL;DR: These guidelines are presented for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.

TL;DR: These findings extend the genetic causes of severe insulin-resistance syndromes and provide important information with respect to the function of PIK3R1 in normal development and its role in human diseases, including growth delay, Rieger anomaly and other ocular affections, insulin resistance, diabetes, paucity of fat, and ovarian cysts.

TL;DR: The effectiveness of periodically combining diagnostic reinterpretation of clinical WES data with translational research involving data sharing for candidate genes is highlighted.

TL;DR: It is shown that expression of autophagy-related genes is upregulated in laminin α2 chain-deficient muscle and that systemic injection of 3-methyladenine reduces muscle fibrosis, atrophy, apoptosis and increases muscle regeneration and muscle mass.

TL;DR: Findings define SGS as a member of the family of diseases associated with the TGF-β-signaling pathway, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.