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Mitochondrial DNA rearrangements in health and disease--a comprehensive study.
Damas J, Samuels DC, Carneiro J, Amorim A, Pereira F. Damas J, et al. Among authors: samuels dc. Hum Mutat. 2014 Jan;35(1):1-14. doi: 10.1002/humu.22452. Epub 2013 Oct 18. Hum Mutat. 2014. PMID: 24115352 Review.
Mitochondrial DNA (mtDNA) rearrangements cause a wide variety of highly debilitating and often fatal disorders and have been implicated in aging and age-associated disease. Here, we present a meta-analytical study of mtDNA deletions (n = 730) and partial duplications (n = …
Mitochondrial DNA (mtDNA) rearrangements cause a wide variety of highly debilitating and often fatal disorders and have been implicated in …
What causes mitochondrial DNA deletions in human cells?
Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. Krishnan KJ, et al. Among authors: samuels dc. Nat Genet. 2008 Mar;40(3):275-9. doi: 10.1038/ng.f.94. Nat Genet. 2008. PMID: 18305478 Review.
Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are likely to have a central role in the aging of postmitotic tissues. Understanding the mechanism of the formation and subsequent clonal expansion of these mtDNA deletions is an essential …
Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are likely to have a central role in the aging o …
Two direct repeats cause most human mtDNA deletions.
Samuels DC, Schon EA, Chinnery PF. Samuels DC, et al. Trends Genet. 2004 Sep;20(9):393-8. doi: 10.1016/j.tig.2004.07.003. Trends Genet. 2004. PMID: 15313545 Review.
Mitochondrial DNA (mtDNA) deletions are a common cause of human mitochondrial disease and also occur as part of normal aging. However, it is unknown how the deletions actually occur. To gain further insight, we studied the sequences that flank 263 different human mtDNA del …
Mitochondrial DNA (mtDNA) deletions are a common cause of human mitochondrial disease and also occur as part of normal aging. However …
Mitochondrial DNA Haplogroups and Frailty in Adults Living with HIV.
Erlandson KM, Bradford Y, Samuels DC, Brown TT, Sun J, Wu K, Tassiopoulos K, Ritchie MD, Haas DW, Hulgan T. Erlandson KM, et al. Among authors: samuels dc. AIDS Res Hum Retroviruses. 2020 Mar;36(3):214-219. doi: 10.1089/AID.2019.0233. Epub 2020 Jan 14. AIDS Res Hum Retroviruses. 2020. PMID: 31822125 Free PMC article.
Mitochondrial DNA haplogroups and domain-specific neurocognitive performance in adults with HIV.
Volpe K, Samuels D, Kallianpur A, Ellis R, Franklin D, Letendre S, Heaton RK, Hulgan T. Volpe K, et al. Among authors: samuels d. J Neurovirol. 2021 Aug;27(4):557-567. doi: 10.1007/s13365-021-00989-7. Epub 2021 Jun 8. J Neurovirol. 2021. PMID: 34101088 Free PMC article.
In the high-energy environment of the central nervous system, mitochondria contribute to neuroinflammation and aging, which may ultimately drive the pathogenesis of neurodegenerative diseases. ...
In the high-energy environment of the central nervous system, mitochondria contribute to neuroinflammation and aging, which may ultim …
Universal heteroplasmy of human mitochondrial DNA.
Payne BA, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Payne BA, et al. Among authors: samuels dc. Hum Mol Genet. 2013 Jan 15;22(2):384-90. doi: 10.1093/hmg/dds435. Epub 2012 Oct 16. Hum Mol Genet. 2013. PMID: 23077218 Free PMC article.
Ostensibly de novo somatic mtDNA mutations, seen in mtDNA maintenance disorders and neurodegenerative disease and aging, will partly be due to the clonal expansion of low-level inherited variants....
Ostensibly de novo somatic mtDNA mutations, seen in mtDNA maintenance disorders and neurodegenerative disease and aging, will partly …
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations.
Payne BA, Wilson IJ, Hateley CA, Horvath R, Santibanez-Koref M, Samuels DC, Price DA, Chinnery PF. Payne BA, et al. Among authors: samuels dc. Nat Genet. 2011 Jun 26;43(8):806-10. doi: 10.1038/ng.863. Nat Genet. 2011. PMID: 21706004 Free PMC article.
Here we show that patients treated with commonly used nucleoside analog anti-retroviral drugs progressively accumulate somatic mitochondrial DNA (mtDNA) mutations, mirroring those seen much later in life caused by normal aging. Ultra-deep re-sequencing by synthesis, combin …
Here we show that patients treated with commonly used nucleoside analog anti-retroviral drugs progressively accumulate somatic mitochondrial …
African Mitochondrial DNA Haplogroup L2 Is Associated With Slower Decline of β-cell Function and Lower Incidence of Diabetes Mellitus in Non-Hispanic, Black Women Living With Human Immunodeficiency Virus.
Sun J, Brown TT, Tong W, Samuels D, Tien P, Aissani B, Aouizerat B, Villacres M, Kuniholm MH, Gustafson D, Michel K, Cohen M, Schneider M, Adimora AA, Ali MK, Bolivar H, Hulgan T. Sun J, et al. Among authors: samuels d. Clin Infect Dis. 2020 Nov 5;71(8):e218-e225. doi: 10.1093/cid/ciaa026. Clin Infect Dis. 2020. PMID: 31927570 Free PMC article.
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