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Author

E. Agolini

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Open access Aug 2026

Prevalence of MUTYH germline variants in Pediatric and Adolescent/Young Adult Patients with a Brain Tumor

Germline pathogenic and likely pathogenic variants (PV/LPV) in MutY DNA Glycosylase (MUTYH), a key gene in the Base Excision Repair (BER) pathway, are classically linked to MUTYH-associated polyposis (MAP) and colorectal cancer. Emerging evidence suggests that MUTYH variants, particularly monoallelic ones, may co...

S. Cipri, A. Cacchione, G. Del Baldo et al. · 0 citations
Open access Jul 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease

The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.

Maya M. Polovitskaya, T. Tkemaladze, L. Jensen 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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