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.· medRxiv· 0 citations
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.· Frontiers in Molecular Biosc...· 0 citations
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.· Orphanet Journal of Rare Dis...· 0 citations
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