Article
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.
Molecular genetics and metabolism - 1 Jun 2026
Sartorelli Jacopo, Sgobbi Paulo, Battini Roberta, Schifino Mariapaola, Trovato Rosanna, Compagnucci Claudia, Lauri Antonella, Tartaglia Marco, Sferra Antonella, D'Amico Adele, Diodato Daria, Bertini Enrico, Nicita Francesco
Abstract excerpt
BACKGROUND: Tubulin-folding cofactor E (TBCE) plays a central role in tubulin heterodimer formation and disaggregation. Both TBCE biallelic and monoallelic pathogenic variants have been associated with human diseases involving endocrine and/or neurologic system. This study aimed to expand current knowledge on the neurodegenerative phenotype associated with TBCE variants, and to explore possible genotype-phenotype...
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