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Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
Schaefer PM, Scherer Alves L, Lvova M, Huang J, Rathi K, Janssen K, Butic A, Yardeni T, Morrow R, Lott M, Murdock D, Song A, Keller K, Garcia BA, Francomano CA, Wallace DC. Schaefer PM, et al. Among authors: murdock d. Proc Natl Acad Sci U S A. 2022 Nov 8;119(45):e2212417119. doi: 10.1073/pnas.2212417119. Epub 2022 Nov 2. Proc Natl Acad Sci U S A. 2022. PMID: 36322731 Free PMC article.
Mitochondria and dystonia: the movement disorder connection?
Wallace DC, Murdock DG. Wallace DC, et al. Among authors: murdock dg. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1817-9. doi: 10.1073/pnas.96.5.1817. Proc Natl Acad Sci U S A. 1999. PMID: 10051550 Free PMC article. No abstract available.
Recurrent tissue-specific mtDNA mutations are common in humans.
Samuels DC, Li C, Li B, Song Z, Torstenson E, Boyd Clay H, Rokas A, Thornton-Wells TA, Moore JH, Hughes TM, Hoffman RD, Haines JL, Murdock DG, Mortlock DP, Williams SM. Samuels DC, et al. Among authors: murdock dg. PLoS Genet. 2013 Nov;9(11):e1003929. doi: 10.1371/journal.pgen.1003929. Epub 2013 Nov 7. PLoS Genet. 2013. PMID: 24244193 Free PMC article.
321 results