Thomas Vaccari

This study shows that C9orf72 repeat expansions cause presymptomatic lysosomal dysfunction in Drosophila, leading to DPR secretion and neurotoxicity, which can be mitigated by valproic acid.

The paper identifies TUSC3 as a gatekeeper regulating glycan trimming of BMP4/Dpp to control ERQC entry and BMP signaling.

This study shows that mesodermal-specific MECP2 overexpression in Drosophila causes muscle and gut defects, which are rescued by butyrate and valproate.

The paper investigates the role of cohesin complex variants in brain tumorigenesis and shows that reduced cohesin activity increases apoptosis, which can be exploited through PARP inhibition.

This study shows that loss of Drosophila N-glycanase 1 causes gut barrier defects, leading to immune activation and lipid catabolism, which contribute to lethality through non-infectious mechanisms.

This study shows that V-ATPase inhibition reduces tumor growth and restores autophagy in a Drosophila glioma model and human glioblastoma neurospheres.

This study investigates the effects of lithium on CdLS phenotypes in experimental models, showing rescue of brain and behavioral abnormalities through WNT pathway activation.

This study investigates the effects of HDAC inhibitors in RSTS models, showing molecular rescue and microbiota changes, and highlights the role of gut microbiota in chromatinopathy.

This study shows that eIF6 upregulation in Drosophila enhances general translation and inhibits ecdysone biosynthesis, affecting development and metabolism.

This study shows that ESCRT-0 is not required for tumor suppression or ectopic Notch activation in Drosophila epithelia, challenging the link between ESCRT function and tumor suppression.