Elisabetta Tabolacci

Mitochondrial Remodeling and Impaired Bioenergetics Define Neuronal Vulnerability in Fragile X-Related Disorders

Fragile X syndrome (FXS) and related conditions associated with FMR1 gene alterations have increasingly been linked to mitochondrial dysfunction, although most available evidence derives from peripheral cell models. Whether these abnormalities also occur in disease-relevant neuro...

A Mechanistic Framework for Somatic Mosaicism in Autoinflammatory Diseases Beyond Mendelian Inheritance

Hereditary autoinflammatory diseases have traditionally been defined as disorders caused by germline mutations in innate immune pathway genes transmitted through Mendelian inheritance, an assumption challenged by the discovery that postzygotic somatic mosaicism can reproduce simi...