M. Chiara Manzini

This study shows that removing maternal compensation in zebrafish reveals retinal-specific roles for Pomgnt1, with retinal abnormalities appearing early and behavioral changes observed.

This study investigates the dose-dependent effects of CC2D1A reduction in mice, finding that ~90% loss leads to ASD/ID-like behaviors in males and metabolic changes, while ~80% loss does not.

This study identifies the CC2D1A interactome in human neurodevelopmental disorders, revealing synaptic roles and novel interactions in the brain.

This study examines the impact of maternal compensation on developmental phenotypes in a zebrafish model of congenital muscular dystrophy, showing distinct effects between zygotic and maternal-zygotic knockouts.

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

This study shows that removing pomt1 in zebrafish leads to dystroglycanopathy phenotypes, including muscle disease and retinal defects, and highlights the role of maternal pomt1 mRNA in development.

The paper shows that zebrafish inpp5ka and inpp5kb, duplicated from whole genome duplication, have diverged in expression and function, with inpp5ka more closely related to human INPP5K and inpp5kb losing catalytic activity.

The paper introduces a data-dependent acquisition strategy for ultrasensitive proteomics, increasing protein detection in trace amounts from cultured neurons.

This paper introduces a digging behavior discrimination test to differentiate burrowing from exploratory digging in mice, revealing sex-specific differences and improved sensitivity in assessing digging motivation.

The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.

The paper identifies male-specific CREB signaling deficits in the hippocampus of a mouse model of autism and intellectual disability, showing that PDE4D inhibition rescues male-specific cognitive deficits.

This study investigates the differential effects of Cc2d1a and Cc2d1b gene loss on behavior, finding that Cc2d1a has more severe impacts than Cc2d1b.