Nataliya Di Donato

This study examines how specific ACTB gene variants affect cytoskeletal reorganization in fibroblasts, finding that G302A reduces cell stiffness and alters cofilin and myosin light chain phosphorylation.

Liver biopsy after PI*ZZ gene correction therapy reveals efficient and accurate base editing.

This study investigates the role of beta- and gamma-actin isoforms in neuronal mechanotransduction using mutations linked to BWCFF syndrome, revealing distinct functional consequences.

The paper identifies coordinated adaptations in neural progenitor cells that drive neocortical downscaling in marmosets compared to humans.

This study investigates the R196H mutation in β-actin, showing it reduces F-actin content and cell stiffness, weakens actin-membrane attachment, and impairs cofilin interaction.

The paper uses cerebral organoids from patients with actin mutations to show that altered cleavage plane orientation in ventricular zone progenitors leads to microcephaly.

The paper uses C. elegans actin mutants to study human actinopathies, finding that mutation severity correlates with phenotypic defects in the worm model.

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.

The paper reports a new clinical syndrome linked to ACTB mutations, characterized by thrombocytopenia, microcephaly, and developmental disability, and identifies altered cytoskeletal interactions in affected cells.