Mathieu Paul Rodero

ATRX Deficiency Drives Aberrant Type I Interferon Signalling Through cGAS-Dependent Transcriptional Dysregulation

This study identifies ATRX deficiency as a driver of aberrant type I interferon signaling via cGAS-dependent transcriptional dysregulation in patients with cerebral white matter disease.

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.

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.