Articles with "defective mitochondrial" as a keyword



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Defective Mitochondrial Cardiolipin Remodeling Dampens HIF-1α Expression in Hypoxia

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Published in 2018 at "Cell Reports"

DOI: 10.1016/j.celrep.2018.09.057

Abstract: Summary Mitochondria fulfill vital metabolic functions and act as crucial cellular signaling hubs, integrating their metabolic status into the cellular context. Here, we show that defective cardiolipin remodeling, upon loss of the cardiolipin acyl transferase… read more here.

Keywords: cardiolipin remodeling; remodeling dampens; cardiolipin; mitochondrial cardiolipin ... See more keywords
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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

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Published in 2017 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddx314

Abstract: Abstract Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like… read more here.

Keywords: rrna; causes melas; mrm2 causes; melas like ... See more keywords