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Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation.
Fan W, Zheng J, Kong W, Cui L, Aishanjiang M, Yi Q, Wang M, Cang X, Tang X, Chen Y, Mo JQ, Sondheimer N, Ge W, Guan MX. Fan W, et al. Among authors: sondheimer n. J Biol Chem. 2019 Dec 13;294(50):19292-19305. doi: 10.1074/jbc.RA119.010598. Epub 2019 Nov 4. J Biol Chem. 2019. PMID: 31685661 Free PMC article.
Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.
Seifert EL, Gál A, Acoba MG, Li Q, Anderson-Pullinger L, Golenár T, Moffat C, Sondheimer N, Claypool SM, Hajnóczky G. Seifert EL, et al. Among authors: sondheimer n. J Biol Chem. 2016 Dec 9;291(50):26126-26137. doi: 10.1074/jbc.M116.744714. Epub 2016 Oct 25. J Biol Chem. 2016. PMID: 27780865 Free PMC article.
Mitochondrial genetic diseases.
Falk MJ, Sondheimer N. Falk MJ, et al. Among authors: sondheimer n. Curr Opin Pediatr. 2010 Dec;22(6):711-6. doi: 10.1097/MOP.0b013e3283402e21. Curr Opin Pediatr. 2010. PMID: 21045694 Free PMC article. Review.
G-quadruplex dynamics contribute to regulation of mitochondrial gene expression.
Falabella M, Kolesar JE, Wallace C, de Jesus D, Sun L, Taguchi YV, Wang C, Wang T, Xiang IM, Alder JK, Maheshan R, Horne W, Turek-Herman J, Pagano PJ, St Croix CM, Sondheimer N, Yatsunyk LA, Johnson FB, Kaufman BA. Falabella M, et al. Among authors: sondheimer n. Sci Rep. 2019 Apr 3;9(1):5605. doi: 10.1038/s41598-019-41464-y. Sci Rep. 2019. PMID: 30944353 Free PMC article.
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT. Lines MA, et al. Among authors: sondheimer n. Eur J Hum Genet. 2021 Nov;29(11):1719-1724. doi: 10.1038/s41431-021-00956-0. Epub 2021 Sep 6. Eur J Hum Genet. 2021. PMID: 34483339 Free PMC article.
85 results