Title |
Tdp-43 cryptic exons are highly variable between cell types
|
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Published in |
Molecular Neurodegeneration, February 2017
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DOI | 10.1186/s13024-016-0144-x |
Pubmed ID | |
Authors |
Yun Ha Jeong, Jonathan P. Ling, Sophie Z. Lin, Aneesh N. Donde, Kerstin E. Braunstein, Elisa Majounie, Bryan J. Traynor, Katherine D. LaClair, Thomas E. Lloyd, Philip C. Wong |
Abstract |
TDP-43 proteinopathy is a prominent pathological feature that occurs in a number of human diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and inclusion body myositis (IBM). Our recent finding that TDP-43 represses nonconserved cryptic exons led us to ask whether cell type-specific cryptic exons could exist to impact unique molecular pathways in brain or muscle. In the present work, we investigated TDP-43's function in various mouse tissues to model disease pathogenesis. We generated mice to conditionally delete TDP-43 in excitatory neurons or skeletal myocytes and identified the cell type-specific cryptic exons associated with TDP-43 loss of function. Comparative analysis of nonconserved cryptic exons in various mouse cell types revealed that only some cryptic exons were common amongst stem cells, neurons, and myocytes; the majority of these nonconserved cryptic exons were cell type-specific. Our results suggest that in human disease, TDP-43 loss of function may impair cell type-specific pathways. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Science communicators (journalists, bloggers, editors) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 98 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 33 | 34% |
Student > Bachelor | 7 | 7% |
Student > Doctoral Student | 6 | 6% |
Student > Master | 6 | 6% |
Researcher | 5 | 5% |
Other | 13 | 13% |
Unknown | 28 | 29% |
Readers by discipline | Count | As % |
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Neuroscience | 27 | 28% |
Biochemistry, Genetics and Molecular Biology | 21 | 21% |
Agricultural and Biological Sciences | 15 | 15% |
Medicine and Dentistry | 4 | 4% |
Nursing and Health Professions | 1 | 1% |
Other | 4 | 4% |
Unknown | 26 | 27% |