Maja Di Rocco

TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.

TL;DR: It is concluded that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE.

TL;DR: Sbelipase alfa therapy resulted in a reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency and observed improvements in lipid levels and reduction in hepatic fat content.

TL;DR: It is concluded that SWS and SJS2 represent a single clinically and genetically homogeneous condition due to null mutations in the LIFR gene on chromosome 5p13.1, and functional studies indicated that these mutations alter the stability of L IFR messenger RNA transcripts, resulting in the absence of the LifR protein and in the impairment of the JAK/STAT3 signaling pathway in patient cells.

TL;DR: It is shown that VIPAR forms a functional complex with VPS33B that interacts with RAB11A that has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney.