Academic Journal
Induced pluripotent stem cells from patients with Huntington's Disease show CAG-repeat-expansion-associated phenotypes
| العنوان: | Induced pluripotent stem cells from patients with Huntington's Disease show CAG-repeat-expansion-associated phenotypes |
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| المؤلفون: | Mattis, V. B., Svendsen, S. P., Ebert, A., Svendsen, C. N., King, A. R., Casale, M., Winokur, S. T., Batugedara, G., Vawter, M., Donovan, P. J., Lock, L. F., Thompson, L. M., Atwal, R. S., Zhu, Y., Fossale, E., Gillis, T., Mysore, J., Li, J.-H., Seong, I. S., Shen, Y., Chen, X., Wheeler, V. C., MacDonald, M. E., Gusella, J. F., Akimov, S., Arbez, N., Juopperi, T., Ratovitski, T., Chiang, J. H., Kim, W. R., Chighladze, E., Watkin, E., Zhong, C., Makri, G., Cole, R. N., Margolis, R. L., Song, H., Ming, G., Ross, C. A., Kaye, J. A., Daub, A., Sharma, P., Mason, A. R., Finkbeiner, S., Rushton, David J., Brazier, Stephen Paul, Battersby, Alysia Agnes, Redfern, Amanda Jane, Tseng, Hsiu-Er, Harrison, Alexander William John, Kemp, Paul J., Allen, Nicholas Denby, Castiglioni, V., Onorati, M., Cattaneo, E., Yu, J., Thomson, J. A., Arjomand, J. |
| بيانات النشر: | Elsevier |
| سنة النشر: | 2012 |
| المجموعة: | Cardiff University: ORCA (Online Research @ Cardiff) |
| مصطلحات موضوعية: | QH301 Biology, QH426 Genetics, R Medicine (General) |
| الوصف: | Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expanded stretch of CAG trinucleotide repeats that results in neuronal dysfunction and death. Here, The HD Consortium reports the generation and characterization of 14 induced pluripotent stem cell (iPSC) lines from HD patients and controls. Microarray profiling revealed CAG-repeat-expansion-associated gene expression patterns that distinguish patient lines from controls, and early onset versus late onset HD. Differentiated HD neural cells showed disease-associated changes in electrophysiology, metabolism, cell adhesion, and ultimately cell death for lines with both medium and longer CAG repeat expansions. The longer repeat lines were however the most vulnerable to cellular stressors and BDNF withdrawal, as assessed using a range of assays across consortium laboratories. The HD iPSC collection represents a unique and well-characterized resource to elucidate disease mechanisms in HD and provides a human stem cell platform for screening new candidate therapeutics. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| Relation: | Mattis, V. B., Svendsen, S. P., Ebert, A., Svendsen, C. N., King, A. R., Casale, M., Winokur, S. T., Batugedara, G., Vawter, M., Donovan, P. J., Lock, L. F., Thompson, L. M., Atwal, R. S., Zhu, Y., Fossale, E., Gillis, T., Mysore, J., Li, J.-H., Seong, I. S., Shen, Y., Chen, X., Wheeler, V. C., MacDonald, M. E., Gusella, J. F., Akimov, S., Arbez, N., Juopperi, T., Ratovitski, T., Chiang, J. H., Kim, W. R., Chighladze, E., Watkin, E., Zhong, C., Makri, G., Cole, R. N., Margolis, R. L., Song, H., Ming, G., Ross, C. A., Kaye, J. A., Daub, A., Sharma, P., Mason, A. R., Finkbeiner, S., Rushton, David J. https://orca.cardiff.ac.uk/view/cardiffauthors/A154345A.html, Brazier, Stephen Paul https://orca.cardiff.ac.uk/view/cardiffauthors/A0352497.html, Battersby, Alysia Agnes https://orca.cardiff.ac.uk/view/cardiffauthors/A050749G.html, Redfern, Amanda Jane https://orca.cardiff.ac.uk/view/cardiffauthors/A039277D.html, Tseng, Hsiu-Er https://orca.cardiff.ac.uk/view/cardiffauthors/A154974Q.html, Harrison, Alexander William John https://orca.cardiff.ac.uk/view/cardiffauthors/A114658M.html, Kemp, Paul J. https://orca.cardiff.ac.uk/view/cardiffauthors/A058447X.html orcid:0000-0003-2773-973X orcid:0000-0003-2773-973X, Allen, Nicholas Denby https://orca.cardiff.ac.uk/view/cardiffauthors/A073944D.html orcid:0000-0003-4009-186X orcid:0000-0003-4009-186X, Castiglioni, V., Onorati, M., Cattaneo, E., Yu, J., Thomson, J. A. and Arjomand, J. 2012. Induced pluripotent stem cells from patients with Huntington's Disease show CAG-repeat-expansion-associated phenotypes. Cell Stem Cell 11 (2) , pp. 264-278. 10.1016/j.stem.2012.04.027 https://doi.org/10.1016/j.stem.2012.04.027 |
| DOI: | 10.1016/j.stem.2012.04.027 |
| الاتاحة: | https://orca.cardiff.ac.uk/id/eprint/35825/ https://doi.org/10.1016/j.stem.2012.04.027 |
| رقم الانضمام: | edsbas.694B090D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.stem.2012.04.027 |
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