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PubMed (GeneRIF) for id: 84274
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A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.
Hum Mutat. 2018.
PMID: 29044765
Free PMC article.
Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency.
Yen HC, Liu YC, Kan CC, Wei HJ, Lee SH, Wei YH, Feng YH, Chen CW, Huang CC.
Yen HC, et al.
Biochim Biophys Acta. 2016 Sep;1860(9):1864-76. doi: 10.1016/j.bbagen.2016.05.005. Epub 2016 May 4.
Biochim Biophys Acta. 2016.
PMID: 27155576
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Detection of suppressed maturation of the human COQ5 protein in the mitochondria following mitochondrial uncoupling by an antibody recognizing both precursor and mature forms of COQ5.
Chen SW, Liu CC, Yen HC.
Chen SW, et al.
Mitochondrion. 2013 Mar;13(2):143-52. doi: 10.1016/j.mito.2013.01.007. Epub 2013 Jan 23.
Mitochondrion. 2013.
PMID: 23354120
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Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.
Hendrickson SL, et al.
PLoS One. 2010 Sep 21;5(9):e12862. doi: 10.1371/journal.pone.0012862.
PLoS One. 2010.
PMID: 20877624
Free PMC article.
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