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| Status |
Public on Oct 01, 2021 |
| Title |
Isogenic human pluripotent stem cell disease models reveal actin binding Rho activating protein deficiency underlies the cardiac troponin T DK210 mutation-induced familial dilated cardiomyopathy I |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
The cTnT-DK210 DCM mice showed ABRA protein deficiency, sarcomeric disruption, and compromised heart contractility. Heart-specific expression of ABRA in cTnT-DK210 mice restored sarcomeric structures, reversed the disease progress, and rescued the DCM phenotypes. ABRA deficiency and compromised downstream serum response factor-regulated muscle gene expression play a key role in familial DCM caused by the cTnT-DK210 mutation. ABRA is a good therapeutic gene for cTnT-DK210-induced DCM and could be translated to other cTnT mutations-induced familial DCM.
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| |
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| Overall design |
Whole transcriptomic analyses of wild type, control AAV9-Luciferase and AAV9-ABRA treated cTnT-DK210 mice hearts.
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| Contributor(s) |
Sun N, Li B, Zhan Y, Liang Q |
| Citation(s) |
33884582 |
| |
| Submission date |
Jul 09, 2020 |
| Last update date |
Feb 08, 2022 |
| Contact name |
Bin Li |
| E-mail(s) |
14111010069@fudan.edu.cn
|
| Organization name |
Fudan University
|
| Department |
Department of Physiology and Pathophysiology
|
| Street address |
Dong'an Road
|
| City |
Shanghai |
| ZIP/Postal code |
200032 |
| Country |
China |
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| Platforms (1) |
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| Samples (9)
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| Relations |
| BioProject |
PRJNA645125 |
| SRA |
SRP271103 |
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