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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. O'Toole JF, et al. Among authors: fujioka h. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179356 Free PMC article.
Kruppel-like factor 4 is critical for transcriptional control of cardiac mitochondrial homeostasis.
Liao X, Zhang R, Lu Y, Prosdocimo DA, Sangwung P, Zhang L, Zhou G, Anand P, Lai L, Leone TC, Fujioka H, Ye F, Rosca MG, Hoppel CL, Schulze PC, Abel ED, Stamler JS, Kelly DP, Jain MK. Liao X, et al. Among authors: fujioka h. J Clin Invest. 2015 Sep;125(9):3461-76. doi: 10.1172/JCI79964. Epub 2015 Aug 4. J Clin Invest. 2015. PMID: 26241060 Free PMC article.
The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity.
Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, Jiang S, Ma X, Jiang Z, da Rocha EL, Sheng M, Choi H, Lerou PH, Li H, Wang X. Wang W, et al. Among authors: fujioka h. Nat Med. 2016 Aug;22(8):869-78. doi: 10.1038/nm.4130. Epub 2016 Jun 27. Nat Med. 2016. PMID: 27348499 Free PMC article.
BAM15-mediated mitochondrial uncoupling protects against obesity and improves glycemic control.
Axelrod CL, King WT, Davuluri G, Noland RC, Hall J, Hull M, Dantas WS, Zunica ER, Alexopoulos SJ, Hoehn KL, Langohr I, Stadler K, Doyle H, Schmidt E, Nieuwoudt S, Fitzgerald K, Pergola K, Fujioka H, Mey JT, Fealy C, Mulya A, Beyl R, Hoppel CL, Kirwan JP. Axelrod CL, et al. Among authors: fujioka h. EMBO Mol Med. 2020 Jul 7;12(7):e12088. doi: 10.15252/emmm.202012088. Epub 2020 Jun 10. EMBO Mol Med. 2020. PMID: 32519812 Free PMC article.
Mitofusin 2 Regulates Axonal Transport of Calpastatin to Prevent Neuromuscular Synaptic Elimination in Skeletal Muscles.
Wang L, Gao J, Liu J, Siedlak SL, Torres S, Fujioka H, Huntley ML, Jiang Y, Ji H, Yan T, Harland M, Termsarasab P, Zeng S, Jiang Z, Liang J, Perry G, Hoppel C, Zhang C, Li H, Wang X. Wang L, et al. Among authors: fujioka h. Cell Metab. 2018 Sep 4;28(3):400-414.e8. doi: 10.1016/j.cmet.2018.06.011. Epub 2018 Jul 12. Cell Metab. 2018. PMID: 30017354 Free PMC article.
Mitochondrial abnormalities in Alzheimer's disease.
Hirai K, Aliev G, Nunomura A, Fujioka H, Russell RL, Atwood CS, Johnson AB, Kress Y, Vinters HV, Tabaton M, Shimohama S, Cash AD, Siedlak SL, Harris PL, Jones PK, Petersen RB, Perry G, Smith MA. Hirai K, et al. Among authors: fujioka h. J Neurosci. 2001 May 1;21(9):3017-23. doi: 10.1523/JNEUROSCI.21-09-03017.2001. J Neurosci. 2001. PMID: 11312286 Free PMC article.
Kruppel-like factor 15 is a critical regulator of cardiac lipid metabolism.
Prosdocimo DA, Anand P, Liao X, Zhu H, Shelkay S, Artero-Calderon P, Zhang L, Kirsh J, Moore D, Rosca MG, Vazquez E, Kerner J, Akat KM, Williams Z, Zhao J, Fujioka H, Tuschl T, Bai X, Schulze PC, Hoppel CL, Jain MK, Haldar SM. Prosdocimo DA, et al. Among authors: fujioka h. J Biol Chem. 2014 Feb 28;289(9):5914-24. doi: 10.1074/jbc.M113.531384. Epub 2014 Jan 8. J Biol Chem. 2014. PMID: 24407292 Free PMC article.
1,042 results