Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential Function
C-terminal-binding proteins (CtBPs) dimerize and function predominantly as transcriptional corepressors by recruiting various chromatin-modifying factors to promoter-bound repressors. Hypotonia, ataxia, developmental delay, and tooth enamel defects syndrome (HADDTS) is a recently discovered neurodev...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-05-01
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| Series: | Biologics |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2673-8449/5/2/14 |
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| Summary: | C-terminal-binding proteins (CtBPs) dimerize and function predominantly as transcriptional corepressors by recruiting various chromatin-modifying factors to promoter-bound repressors. Hypotonia, ataxia, developmental delay, and tooth enamel defects syndrome (HADDTS) is a recently discovered neurodevelopmental disorder resulting from a heterozygous missense mutation in <i>CTBP1</i>. It is often associated with the early onset of profound cerebellar atrophy in patients. Allen Institute’s Allen Brain Cell (ABC) atlas of human brain data was used to localize <i>CTBP1</i> expression in the brain to elucidate the etiology of HADDTS. Based on the ABC atlas, <i>CTBP1</i> is highly expressed in the upper rhombic lip supercluster, which gives rise to cerebellar cells and provides insights into the cerebellar pathophysiology observed in HADDTS patients. |
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| ISSN: | 2673-8449 |