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Author

G. Colafati

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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 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

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