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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…
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Keywords:
cardiolipin remodeling;
remodeling dampens;
cardiolipin;
mitochondrial cardiolipin ... See more keywords
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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…
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Keywords:
rrna;
causes melas;
mrm2 causes;
melas like ... See more keywords