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Promoter analysis and transcriptional regulation of human carbonic anhydrase VIII gene in a MERRF disease cell model.

Archives of biochemistry and biophysics - 1 Mar 2018

Lo Che-Min, Ma Yi-Shing, Wei Yau-Huei, Hsieh Benjamin Y T, Hsieh Mingli

Abstract excerpt

Myoclonic epilepsy with ragged-red fibers (MERRF) is a maternally inherited mitochondrial neuromuscular disease. We previously reported a significant decrease of mRNA and protein levels of nuclear DNA-encoded carbonic anhydrase VIII (CA8) in MERRF cybrids harboring A8344G mutation in mitochondrial DNA (mtDNA). In this study, we established a reporter construct of luciferase gene-carrying hCA8 promoter containing...

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PMID: 29407793
DOI: 10.1016/j.abb.2018.01.012

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