Year |
Citation |
Score |
2020 |
Wahedi A, Günther A, Weyrich A, Sondheimer N. The mitochondrial genome of Cavia aperea Mitochondrial Dna Part B. 5: 2147-2148. PMID 33457761 DOI: 10.1080/23802359.2020.1768918 |
0.361 |
|
2020 |
McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, ... Sondheimer N, et al. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human Mutation. PMID 32906214 DOI: 10.1002/Humu.24107 |
0.399 |
|
2019 |
Mishmar D, Levin R, Naeem MM, Sondheimer N. Higher Order Organization of the mtDNA: Beyond Mitochondrial Transcription Factor A. Frontiers in Genetics. 10: 1285. PMID 31998357 DOI: 10.3389/Fgene.2019.01285 |
0.397 |
|
2019 |
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. Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA 7511A>G mutation. The Journal of Biological Chemistry. PMID 31685661 DOI: 10.1074/Jbc.Ra119.010598 |
0.354 |
|
2019 |
Naeem MM, Sondheimer N. Heteroplasmy Shifting as Therapy for Mitochondrial Disorders. Advances in Experimental Medicine and Biology. 1158: 257-267. PMID 31452145 DOI: 10.1007/978-981-13-8367-0_14 |
0.415 |
|
2019 |
Naeem MM, Maheshan R, Costford SR, Wahedi A, Trajkovski M, Plavec J, Yatsunyk LA, Ciesielski GL, Kaufman BA, Sondheimer N. G-quadruplex-mediated reduction of a pathogenic mitochondrial heteroplasmy. Human Molecular Genetics. 28: 3163-3174. PMID 31261379 DOI: 10.1093/Hmg/Ddz153 |
0.397 |
|
2019 |
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, et al. G-quadruplex dynamics contribute to regulation of mitochondrial gene expression. Scientific Reports. 9: 5605. PMID 30944353 DOI: 10.1038/S41598-019-41464-Y |
0.358 |
|
2018 |
Kaufman BA, Picard M, Sondheimer N. Mitochondrial DNA, nuclear context, and the risk for carcinogenesis. Environmental and Molecular Mutagenesis. PMID 29332303 DOI: 10.1002/Em.22169 |
0.42 |
|
2017 |
Crawford N, Prendergast D, Oehlert JW, Shaw GM, Stevenson DK, Rappaport N, Sirota M, Tishkoff SA, Sondheimer N. Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth. The Journal of Pediatrics. PMID 29249523 DOI: 10.1016/J.Jpeds.2017.10.052 |
0.36 |
|
2017 |
Sonney S, Leipzig J, Lott MT, Zhang S, Procaccio V, Wallace DC, Sondheimer N. Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP. Plos Computational Biology. 13: e1005867. PMID 29227991 DOI: 10.1371/Journal.Pcbi.1005867 |
0.407 |
|
2017 |
Hogarth KA, Costford SR, Yoon G, Sondheimer N, Maynes JT. DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction. Biochemical Genetics. PMID 29110115 DOI: 10.1007/S10528-017-9829-2 |
0.413 |
|
2017 |
Sondheimer N, Hewson S, Cameron JM, Somers GR, Broadbent JD, Ziosi M, Quinzii CM, Naini AB. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency. Molecular Genetics and Metabolism Reports. 12: 23-27. PMID 28540186 DOI: 10.1016/J.Ymgmr.2017.05.001 |
0.384 |
|
2016 |
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, et al. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. American Journal of Human Genetics. PMID 27889060 DOI: 10.1016/J.Ajhg.2016.10.009 |
0.313 |
|
2016 |
Seifert EL, Gál A, Acoba MG, Li Q, Anderson-Pullinger L, Golenár T, Moffat C, Sondheimer N, Claypool SM, Hajnóczky G. Natural and induced mitochondrial phosphate carrier loss: differential dependence of mitochondrial metabolism and dynamics, and cell survival, on the extent of depletion. The Journal of Biological Chemistry. PMID 27780865 DOI: 10.1074/Jbc.M116.744714 |
0.412 |
|
2016 |
Seifert E, Gal A, Acoba MG, Claypool SM, Anderson-Pullinger L, Varnai P, Moffat C, Weaver D, Sondheimer N, Hajnoczky G. Novel Mutations in SLC25A3 Encoding the Mitochondrial Phosphate Carrier Biophysical Journal. 110: 474a. DOI: 10.1016/J.Bpj.2015.11.2536 |
0.435 |
|
2016 |
Falabella M, Kolesar J, Taguchi Y, Wang C, Xiang I, Barrett S, Turek-Herman J, St. Croix C, Sondheimer N, Yatsunik L, Johnson F, Kaufman B. G-quadruplexes: A role in the mitochondrial genome stability Biochimica Et Biophysica Acta (Bba) - Bioenergetics. 1857: e23-e24. DOI: 10.1016/J.Bbabio.2016.04.048 |
0.342 |
|
2015 |
Seifert EL, Ligeti E, Mayr JA, Sondheimer N, Hajnóczky G. The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease. Biochemical and Biophysical Research Communications. 464: 369-75. PMID 26091567 DOI: 10.1016/J.Bbrc.2015.06.031 |
0.41 |
|
2015 |
Seifert EL, Gál A, Várnai P, Moffat C, Weaver D, Sondheimer N, Hajnóczky G. Novel mutations in SLC25A3 encoding the mitochondrial phosphate carrier Mitochondrion. 24. DOI: 10.1016/J.Mito.2015.07.087 |
0.383 |
|
2015 |
Byrnes J, Sondheimer N. Mitochondrial DNA topology is critical for mitochondrial genome maintenance and the regulation of gene expression Mitochondrion. 24. DOI: 10.1016/J.Mito.2015.07.080 |
0.381 |
|
2014 |
Sondheimer N, Zollo O, Van Deerlin V, Trojanowski JQ. Analysis of cerebrospinal fluid mitochondrial DNA levels in Alzheimer disease. Annals of Neurology. 75: 458-60. PMID 24424574 DOI: 10.1002/Ana.24107 |
0.326 |
|
2013 |
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, ... ... Sondheimer N, et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics. 93: 482-95. PMID 23993194 DOI: 10.1016/J.Ajhg.2013.07.016 |
0.439 |
|
2013 |
Clarke C, Xiao R, Place E, Zhang Z, Sondheimer N, Bennett M, Yudkoff M, Falk MJ. Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. Molecular Genetics and Metabolism. 110: 145-52. PMID 23920046 DOI: 10.1016/J.Ymgme.2013.07.011 |
0.36 |
|
2013 |
D’Aco KE, Manno M, Clarke C, Ganesh J, Meyers KEC, Sondheimer N. Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood. Pediatric Nephrology. 28: 515-519. PMID 23135609 DOI: 10.1007/S00467-012-2354-Y |
0.383 |
|
2013 |
Gai X, Ghezzi D, Johnson MA, Biagosch C, Shamseldin H, Tsukikawa M, Sheldon C, Srinivasan S, Haack T, Gorza M, Wieland T, Strom T, Polyak E, Place E, Consugar M, ... ... Sondheimer N, et al. FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy Mitochondrion. 13: 939-940. DOI: 10.1016/J.Mito.2013.07.104 |
0.363 |
|
2012 |
Zollo O, Tiranti V, Sondheimer N. Transcriptional requirements of the distal heavy-strand promoter of mtDNA Proceedings of the National Academy of Sciences of the United States of America. 109: 6508-6512. PMID 22454497 DOI: 10.1073/Pnas.1118594109 |
0.34 |
|
2012 |
Sondheimer N, Zollo O, Mills JA, Glatz CE, Gadue P, French DL. Spontaneous elimination of mitochondrial mutations during the induction of pluripotency Mitochondrion. 12: 553-554. DOI: 10.1016/J.Mito.2012.07.011 |
0.381 |
|
2011 |
Glatz C, D'Aco K, Smith S, Sondheimer N. Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes. Mitochondrion. 11: 615-9. PMID 21540128 DOI: 10.1016/J.Mito.2011.04.003 |
0.368 |
|
2011 |
Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H. Neutral mitochondrial heteroplasmy and the influence of aging. Human Molecular Genetics. 20: 1653-9. PMID 21296868 DOI: 10.1093/Hmg/Ddr043 |
0.383 |
|
2011 |
Sondheimer⁎ N, Glatz C, Deardorff MA, Krieger AM, Hakonarson H. Mitochondrial heteroplasmy and the influence of aging Mitochondrion. 11: 654. DOI: 10.1016/J.Mito.2011.03.059 |
0.34 |
|
2010 |
Falk MJ, Sondheimer N. Mitochondrial genetic diseases Current Opinion in Pediatrics. 22: 711-716. PMID 21045694 DOI: 10.1097/Mop.0B013E3283402E21 |
0.415 |
|
2010 |
Sondheimer N, Fang JK, Polyak E, Falk MJ, Avadhani NG. Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription. Biochemistry. 49: 7467-7473. PMID 20677761 DOI: 10.1021/Bi1008479 |
0.41 |
|
2010 |
Guha M, Tang W, Sondheimer N, Avadhani NG. Role of calcineurin, hnRNPA2 and Akt in mitochondrial respiratory stress-mediated transcription activation of nuclear gene targets. Biochimica Et Biophysica Acta. 1797: 1055-65. PMID 20153290 DOI: 10.1016/J.Bbabio.2010.02.008 |
0.345 |
|
2010 |
Sondheimer N, Fang J, Polyak E, Avadhani NG. 128 Regulation of mitochondrial gene expression by LRPPRC Mitochondrion. 10: 236. DOI: 10.1016/J.Mito.2009.12.119 |
0.343 |
|
2008 |
Biswas G, Tang W, Sondheimer N, Guha M, Bansal S, Avadhani NG. A distinctive physiological role for IkappaBbeta in the propagation of mitochondrial respiratory stress signaling. The Journal of Biological Chemistry. 283: 12586-94. PMID 18272519 DOI: 10.1074/Jbc.M710481200 |
0.35 |
|
2002 |
Liu JJ, Sondheimer N, Lindquist SL. Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [PSI+]. Proceedings of the National Academy of Sciences of the United States of America. 99: 16446-53. PMID 12461168 DOI: 10.1073/Pnas.252652099 |
0.596 |
|
2001 |
Sondheimer N, Lopez N, Craig EA, Lindquist S. The role of Sis1 in the maintenance of the [RNQ+] prion Embo Journal. 20: 2435-2442. PMID 11350932 DOI: 10.1093/Emboj/20.10.2435 |
0.51 |
|
2001 |
Lindquist S, Krobitsch S, Li L, Sondheimer N, Peto H, Dobson CM, Perutz MF, Pepys M, Goldberg ME. Investigating protein conformation-based inheritance and disease in yeast Philosophical Transactions of the Royal Society B: Biological Sciences. 356: 169-176. PMID 11260797 DOI: 10.1098/Rstb.2000.0762 |
0.536 |
|
2000 |
Satyal SH, Schmidt E, Kitagawa K, Sondheimer N, Lindquist S, Kramer JM, Morimoto RI. Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans. Proceedings of the National Academy of Sciences of the United States of America. 97: 5750-5. PMID 10811890 DOI: 10.1073/Pnas.100107297 |
0.508 |
|
2000 |
Sondheimer N, Lindquist S. Rnq1: An Epigenetic Modifier of Protein Function in Yeast Molecular Cell. 5: 163-172. PMID 10678178 DOI: 10.1016/S1097-2765(00)80412-8 |
0.523 |
|
2000 |
Lindquist SL, Krobitsch S, Li L, Sondheimer N, True H. New Mechanisms of Inheritance Based on Self-perpetuating Changes in Protein Conformation Biochemical Society Transactions. 28. DOI: 10.1042/Bst028A137A |
0.482 |
|
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