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Article

A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly.

The international journal of biochemistry & cell biology - 1 Jun 2016

Porcelli Anna Maria, Calvaruso Maria Antonietta, Iommarini Luisa, Kurelac Ivana, Zuntini Roberta, Ferrari Simona, Gasparre Giuseppe

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations in respiratory complexes subunits contribute to a large spectrum of human diseases. Nonetheless, ribosomal RNA variants remain largely under-investigated from a functional point of view. We here report a unique combination of two rare mitochondrial rRNA variants detected by serendipity in a subject with chronic granulomatous disease and never reported to co-occur within the...

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PMID: 27102412
DOI: 10.1016/j.biocel.2016.04.007

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