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Cell lineage-specific mitochondrial resilience during mammalian organogenesis.
Burr SP, Klimm F, Glynos A, Prater M, Sendon P, Nash P, Powell CA, Simard ML, Bonekamp NA, Charl J, Diaz H, Bozhilova LV, Nie Y, Zhang H, Frison M, Falkenberg M, Jones N, Minczuk M, Stewart JB, Chinnery PF. Burr SP, et al. Among authors: chinnery pf. Cell. 2023 Mar 16;186(6):1212-1229.e21. doi: 10.1016/j.cell.2023.01.034. Epub 2023 Feb 23. Cell. 2023. PMID: 36827974 Free article.
Show MERCI on mobile mitochondria.
van den Ameele J, Chinnery PF. van den Ameele J, et al. Among authors: chinnery pf. Cell Metab. 2024 Jan 2;36(1):5-7. doi: 10.1016/j.cmet.2023.12.017. Cell Metab. 2024. PMID: 38171338
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Gupta R, et al. Among authors: chinnery pf. medRxiv [Preprint]. 2023 Jan 19:2023.01.19.23284696. doi: 10.1101/2023.01.19.23284696. medRxiv. 2023. PMID: 36711677 Free PMC article. Updated. Preprint.
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA; Genomics England Research Consortium; NIHR BioResource; Fratter C, Turro E, Caulfield MJ, Taylor JC, Rahman S, Chinnery PF. Wei W, et al. Among authors: chinnery pf. Nat Commun. 2020 Apr 8;11(1):1740. doi: 10.1038/s41467-020-15336-3. Nat Commun. 2020. PMID: 32269217 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: chinnery pf. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Gupta R, et al. Among authors: chinnery pf. Nature. 2023 Aug;620(7975):839-848. doi: 10.1038/s41586-023-06426-5. Epub 2023 Aug 16. Nature. 2023. PMID: 37587338 Free PMC article.
639 results