An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. The most severely affected dilated cardiomyopathy patients harbor Titin truncations in the C-terminal two-thirds of the protein, suggesting that mutation position might influence diseas...

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Detalhes bibliográficos
Publicado no:eLife
Main Authors: Zou, Jun, Tran, Diana, Baalbaki, Mai, Tang, Ling Fung, Poon, Annie, Pelonero, Angelo, Titus, Erron W, Yuan, Christiana, Shi, Chenxu, Patchava, Shruthi, Halper, Elizabeth, Garg, Jasmine, Movsesyan, Irina, Yin, Chaoying, Wu, Roland, Wilsbacher, Lisa D, Liu, Jiandong, Hager, Ronald L, Coughlin, Shaun R, Jinek, Martin, Pullinger, Clive R, Kane, John P, Hart, Daniel O, Kwok, Pui-Yan, Deo, Rahul C
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2015
Assuntos:
Human Biology and Medicine
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4720518/
https://ncbi.nlm.nih.gov/pubmed/26473617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.09406
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