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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: felser a. 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.
Small-molecule inhibitors of human mitochondrial DNA transcription.
Bonekamp NA, Peter B, Hillen HS, Felser A, Bergbrede T, Choidas A, Horn M, Unger A, Di Lucrezia R, Atanassov I, Li X, Koch U, Menninger S, Boros J, Habenberger P, Giavalisco P, Cramer P, Denzel MS, Nussbaumer P, Klebl B, Falkenberg M, Gustafsson CM, Larsson NG. Bonekamp NA, et al. Among authors: felser a. Nature. 2020 Dec;588(7839):712-716. doi: 10.1038/s41586-020-03048-z. Epub 2020 Dec 16. Nature. 2020. PMID: 33328633
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency.
Laemmle A, Steck AL, Schaller A, Kurth S, Perret Hoigné E, Felser AD, Slavova N, Salvisberg C, Atencio M, Mochel F, Nuoffer JM, Gautschi M. Laemmle A, et al. Among authors: felser ad. Mol Genet Metab Rep. 2021 Oct 19;29:100814. doi: 10.1016/j.ymgmr.2021.100814. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712577 Free PMC article.
The histidine triad nucleotide-binding protein 2 (HINT-2) positively regulates hepatocellular energy metabolism.
Rajasekaran R, Felser A, Nuoffer JM, Dufour JF, St-Pierre MV. Rajasekaran R, et al. Among authors: felser a. FASEB J. 2018 Sep;32(9):5143-5161. doi: 10.1096/fj.201701429R. Epub 2018 Apr 18. FASEB J. 2018. PMID: 29913563
The histidine triad nucleotide-binding protein 2 (HINT-2) is a mitochondrial adenosine phosphoramidase expressed in hepatocytes. ...The bioenergetics deficit accumulated over time in hepatocytes lacking HINT-2 likely leads to the secondary outcome of steatosis.-Rajasekaran …
The histidine triad nucleotide-binding protein 2 (HINT-2) is a mitochondrial adenosine phosphoramidase expressed in hepatocytes. ...T …
A new mouse model of radiation-induced liver disease reveals mitochondrial dysfunction as an underlying fibrotic stimulus.
Melin N, Yarahmadov T, Sanchez-Taltavull D, Birrer FE, Brodie TM, Petit B, Felser A, Nuoffer JM, Montani M, Vozenin MC, Herrmann E, Candinas D, Aebersold DM, Stroka D. Melin N, et al. Among authors: felser a. JHEP Rep. 2022 May 21;4(7):100508. doi: 10.1016/j.jhepr.2022.100508. eCollection 2022 Jul. JHEP Rep. 2022. PMID: 35712694 Free PMC article.
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