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Article

The protective roles of phosphorylated heat shock protein 27 in human cells harboring myoclonus epilepsy with ragged-red fibers A8344G mtDNA mutation.

The FEBS journal - 1 Aug 2012

Chen Hsueh-Fu, Chen Chin-Yi, Lin Ting-Hui, Huang Zhao-Wei, Chi Tang-Hao, Ma Yi-Shing, Wu Shi-Bei, Wei Yau-Huei, Hsieh Mingli

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations are associated with a large number of neuromuscular diseases. Myoclonus epilepsy with ragged-red fibers (MERRF) syndrome is a mitochondrial disease inherited through the maternal lineage. The most common mutation in MERRF syndrome, the A8344G mutation of mtDNA, is associated with severe defects in mitochondrial protein synthesis, which impair the assembly and function of the...

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PMID: 22742457
DOI: 10.1111/j.1742-4658.2012.08678.x

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STS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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