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F. Nicita

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Open access Sep 2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

CUB and Sushi domains-containing CSMD proteins are involved in neuron development. Variants in the CSMD1-3 paralogs were GWAS-associated with cognition, attention-deficit hyperactivity disorder (ADHD), schizophrenia and brain structure, suggesting that these genes could be linked to neurodevelopmental disorders (NDD)....

C. Pailler-Pradeau, M. Lemée, Caterina Cevallos et al. · 0 citations
Open access Sep 2026

Lipid signature in X-ALD: a comparison between phenotypes

Although both AMN and CALD fibroblasts share some disease-associated lipid alterations, CALD samples exhibited a broader and more pronounced perturbation in multiple lipid classes, particularly in LPCs and steryl esters.

A. di Veroli, S. Petrillo, Caterina Torda et al. · 0 citations
Open access Aug 2026

Novel heterozygous truncating variant in TUBB associated with thrombocytopaenia and neurological abnormalities

It is indicated that reduced protein stability and functional impairment of β-tubulin represent key pathogenic mechanisms underlying this condition, and the experimental evidence further supports the implication of TUBB dysfunctions in haematological abnormalities.

Ilaria Svezia, Riccardo Zocchi, Michela Piccione et al. · 0 citations

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