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Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.
White K, Lu Y, Annis S, Hale AE, Chau BN, Dahlman JE, Hemann C, Opotowsky AR, Vargas SO, Rosas I, Perrella MA, Osorio JC, Haley KJ, Graham BB, Kumar R, Saggar R, Saggar R, Wallace WD, Ross DJ, Khan OF, Bader A, Gochuico BR, Matar M, Polach K, Johannessen NM, Prosser HM, Anderson DG, Langer R, Zweier JL, Bindoff LA, Systrom D, Waxman AB, Jin RC, Chan SY. White K, et al. Among authors: bindoff la. EMBO Mol Med. 2015 Jun;7(6):695-713. doi: 10.15252/emmm.201404511. EMBO Mol Med. 2015. PMID: 25825391 Free PMC article.
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Brunetti D, et al. Among authors: bindoff la. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894. EMBO Mol Med. 2016. PMID: 26697887 Free PMC article.
Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations.
Liang KX, Kristiansen CK, Mostafavi S, Vatne GH, Zantingh GA, Kianian A, Tzoulis C, Høyland LE, Ziegler M, Perez RM, Furriol J, Zhang Z, Balafkan N, Hong Y, Siller R, Sullivan GJ, Bindoff LA. Liang KX, et al. Among authors: bindoff la. EMBO Mol Med. 2020 Oct 7;12(10):e12146. doi: 10.15252/emmm.202012146. Epub 2020 Aug 25. EMBO Mol Med. 2020. PMID: 32840960 Free PMC article.
Unusual features in a boy with the rapsyn N88K mutation.
Skeie GO, Aurlien H, Müller JS, Lochmüller H, Norgârd G, Bindoff LA. Skeie GO, et al. Among authors: bindoff la. Neurology. 2006 Dec 26;67(12):2262-3. doi: 10.1212/01.wnl.0000249184.09369.c2. Neurology. 2006. PMID: 17190963 No abstract available.
A novel Refsum-like disorder that maps to chromosome 20.
Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. Fiskerstrand T, et al. Among authors: bindoff la. Neurology. 2009 Jan 6;72(1):20-7. doi: 10.1212/01.wnl.0000333664.90605.23. Epub 2008 Nov 12. Neurology. 2009. PMID: 19005174
222 results