Tissue Specificity of a Human Mitochondrial Disease: DIFFERENTIATION-ENHANCED MIS-SPLICING OF THE Fe-S SCAFFOLD GENE ISCU RENDERS PATIENT CELLS MORE SENSITIVE TO OXIDATIVE STRESS IN ISCU MYOPATHY

Iron-sulfur (Fe-S) cluster cofactors are formed on the scaffold protein ISCU. ISCU myopathy is a disease caused by an intronic mutation that leads to abnormally spliced ISCU mRNA. We found that two predominant mis-spliced ISCU mRNAs produce a truncated and short-lived ISCU protein product in multipl...

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Detalhes bibliográficos
Main Authors: Crooks, Daniel R., Jeong, Suh Young, Tong, Wing-Hang, Ghosh, Manik C., Olivierre, Hayden, Haller, Ronald G., Rouault, Tracey A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3504726/
https://ncbi.nlm.nih.gov/pubmed/23035118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.418889
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