Article
A Rare CTBP1-Related Neurodevelopmental Disorder Is Associated with Impaired Mitochondrial Bioenergetics: A Functional Case Report.
International journal of molecular sciences - 29 Apr 2026
Ivanov Zdravko, Gevezova Maria, Pacheva Iliyana, Ketev Kostadin, Chochkova-Bukova Lyubov, Sarafian Victoria, Ivanov Ivan
Abstract excerpt
The C-terminal binding protein 1 (CTBP1) is a transcriptional corepressor with a major role in nervous system growth and development. There are only 20 published cases with CTBP1 mutations, displaying a phenotype of Hypotonia, Ataxia, Developmental Delay and Tooth enamel defect Syndrome (HADDTS). Histochemical evidence of decreased mitochondrial respiratory chain activity has been previously reported, but...
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