François‐Jérôme Authier

Dysregulated dsRNA sensor signaling and viral infection during onset of pediatric autoimmune interferonopathy

The paper identifies dysregulated dsRNA sensing and RNA viral exposure as potential triggers of type I interferon dysregulation in juvenile dermatomyositis onset.

Progressive muscle metabolic reprogramming in asymptomatic ALS gene mutation carriers

Skeletal muscle from individuals at elevated genetic risk for ALS/FTD undergoes progressive metabolic reprogramming far before disease onset.

Muscle spatial transcriptomic reveals heterogeneous profiles in untreated juvenile dermatomyositis and the persistence of pathological signature after remission

This study uses spatial transcriptomics to identify persistent pathological signatures in JDM muscle after remission.

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPAR signaling

The paper identifies PLAAT3 loss-of-function mutations in humans causing lipodystrophy and insulin resistance by impairing arachidonic acid-mediated PPAR signaling in adipose tissue.