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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmüller H, Minczuk M, Horvath R. Van Haute L, et al. Among authors: gustafsson c. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.
Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH. Connor TM, et al. Among authors: gustafsson cm. PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28267784 Free PMC article.
TEFM regulates both transcription elongation and RNA processing in mitochondria.
Jiang S, Koolmeister C, Misic J, Siira S, Kühl I, Silva Ramos E, Miranda M, Jiang M, Posse V, Lytovchenko O, Atanassov I, Schober FA, Wibom R, Hultenby K, Milenkovic D, Gustafsson CM, Filipovska A, Larsson NG. Jiang S, et al. Among authors: gustafsson cm. EMBO Rep. 2019 Jun;20(6):e48101. doi: 10.15252/embr.201948101. Epub 2019 Apr 29. EMBO Rep. 2019. PMID: 31036713 Free PMC article.
Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer.
Strakova A, Nicholls TJ, Baez-Ortega A, Ní Leathlobhair M, Sampson AT, Hughes K, Bolton IAG, Gori K, Wang J, Airikkala-Otter I, Allen JL, Allum KM, Arnold CL, Bansse-Issa L, Bhutia TN, Bisson JL, Blank K, Briceño C, Castillo Domracheva A, Corrigan AM, Cran HR, Crawford JT, Cutter SM, Davis E, de Castro KF, De Nardi AB, de Vos AP, Delgadillo Keenan L, Donelan EM, Espinoza Huerta AR, Faramade IA, Fazil M, Fotopoulou E, Fruean SN, Gallardo-Arrieta F, Glebova O, Gouletsou PG, Häfelin Manrique RF, Henriques JJGP, Horta RS, Ignatenko N, Kane Y, King C, Koenig D, Krupa A, Kruzeniski SJ, Lanza-Perea M, Lazyan M, Lopez Quintana AM, Losfelt T, Marino G, Martínez Castañeda S, Martínez-López MF, Masuruli BM, Meyer M, Migneco EJ, Nakanwagi B, Neal KB, Neunzig W, Nixon SJ, Ortega-Pacheco A, Pedraza-Ordoñez F, Peleteiro MC, Polak K, Pye RJ, Ramirez-Ante JC, Reece JF, Rojas Gutierrez J, Sadia H, Schmeling SK, Shamanova O, Sherlock AG, Steenland-Smit AE, Svitich A, Tapia Martínez LJ, Thoya Ngoka I, Torres CG, Tudor EM, van der Wel MG, Vițălaru BA, Vural SA, Walkinton O, Wehrle-Martinez AS, Widdowson SAE, Zvarich I, Chinnery PF, Falkenberg M, Gustafsson CM, Murchison EP. Strakova A, et al. Among authors: gustafsson cm. Nat Commun. 2020 Jun 16;11(1):3059. doi: 10.1038/s41467-020-16765-w. Nat Commun. 2020. PMID: 32546718 Free PMC article.
318 results