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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MDPI AG
2025-05-01
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| Series: | Biologics |
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| Online Access: | https://www.mdpi.com/2673-8449/5/2/14 |
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| author | Suhjin Lee Uthayashanker R. Ezekiel |
| author_facet | Suhjin Lee Uthayashanker R. Ezekiel |
| author_sort | Suhjin Lee |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b2991d09a2ac48ed8ebd2334d852e8a9 |
| institution | Matheson Library |
| issn | 2673-8449 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biologics |
| spelling | doaj-art-b2991d09a2ac48ed8ebd2334d852e8a92025-06-25T13:30:12ZengMDPI AGBiologics2673-84492025-05-01521410.3390/biologics5020014Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential FunctionSuhjin Lee0Uthayashanker R. Ezekiel1Department of Health Management, College of Public Health and Social Justice, Saint Louis University, St. Louis, MO 63104, USADepartment of Clinical Health Sciences, Doisy College of Allied Health Sciences, Saint Louis University, St. Louis, MO 63104, USAC-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.https://www.mdpi.com/2673-8449/5/2/14CtBP1HADDTSAllen’s ABC atlastranscriptional repression |
| spellingShingle | Suhjin Lee Uthayashanker R. Ezekiel Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential Function Biologics CtBP1 HADDTS Allen’s ABC atlas transcriptional repression |
| title | Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential Function |
| title_full | Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential Function |
| title_fullStr | Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential Function |
| title_full_unstemmed | Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential Function |
| title_short | Using the Allen Brain Cell Atlas of the Human Brain to Gain Insights into C-Terminal-Binding Protein 1 (CtBP1)’s Potential Function |
| title_sort | using the allen brain cell atlas of the human brain to gain insights into c terminal binding protein 1 ctbp1 s potential function |
| topic | CtBP1 HADDTS Allen’s ABC atlas transcriptional repression |
| url | https://www.mdpi.com/2673-8449/5/2/14 |
| work_keys_str_mv | AT suhjinlee usingtheallenbraincellatlasofthehumanbraintogaininsightsintocterminalbindingprotein1ctbp1spotentialfunction AT uthayashankerrezekiel usingtheallenbraincellatlasofthehumanbraintogaininsightsintocterminalbindingprotein1ctbp1spotentialfunction |