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PubMed (OMIM) for id: 79135
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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21.
J Med Genet. 2021.
PMID: 32439808
Free PMC article.
The non-glycosylated isoform of MIC26 is a constituent of the mammalian MICOS complex and promotes formation of crista junctions.
Koob S, Barrera M, Anand R, Reichert AS.
Koob S, et al.
Biochim Biophys Acta. 2015 Jul;1853(7):1551-63. doi: 10.1016/j.bbamcr.2015.03.004. Epub 2015 Mar 9.
Biochim Biophys Acta. 2015.
PMID: 25764979
Free article.
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APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria.
Weber TA, Koob S, Heide H, Wittig I, Head B, van der Bliek A, Brandt U, Mittelbronn M, Reichert AS.
Weber TA, et al.
PLoS One. 2013 May 21;8(5):e63683. doi: 10.1371/journal.pone.0063683. Print 2013.
PLoS One. 2013.
PMID: 23704930
Free PMC article.
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ApoO, a novel apolipoprotein, is an original glycoprotein up-regulated by diabetes in human heart.
Lamant M, Smih F, Harmancey R, Philip-Couderc P, Pathak A, Roncalli J, Galinier M, Collet X, Massabuau P, Senard JM, Rouet P.
Lamant M, et al.
J Biol Chem. 2006 Nov 24;281(47):36289-302. doi: 10.1074/jbc.M510861200. Epub 2006 Sep 6.
J Biol Chem. 2006.
PMID: 16956892
Free article.
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