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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A. Freyer C, et al. Among authors: hinze y. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17. J Med Genet. 2015. PMID: 26084283 Free PMC article.
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters.
Rosenberger FA, Moore D, Atanassov I, Moedas MF, Clemente P, Végvári Á, Fissi NE, Filograna R, Bucher AL, Hinze Y, The M, Hedman E, Chernogubova E, Begzati A, Wibom R, Jain M, Nilsson R, Käll L, Wedell A, Freyer C, Wredenberg A. Rosenberger FA, et al. Among authors: hinze y. Sci Adv. 2021 Feb 19;7(8):eabf0717. doi: 10.1126/sciadv.abf0717. Print 2021 Feb. Sci Adv. 2021. PMID: 33608280 Free PMC article.
16 results