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Items: 1 to 20 of 212

1.
Mitochondrial DNA depletion, mitochondrial mutations and high TFAM expression in hepatocellular carcinoma
Lihua Qiao, Guoqing Ru, Zhuochao Mao, Chenghui Wang, Zhipeng Nie, Qiang Li, Yiyi Huang-yang, Ling Zhu, Xiaoyang Liang, Jialing Yu, Pingping Jiang
Oncotarget. 2017 Oct 13; 8(48): 84373–84383. Published online 2017 Sep 16. doi: 10.18632/oncotarget.21033
PMCID:
PMC5663603
AbstractArticlePDF–2.9M
2.
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes
Tuomas Komulainen, Milla-Riikka Hautakangas, Reetta Hinttala, Salla Pakanen, Vesa Vähäsarja, Petri Lehenkari, Päivi Olsen, Päivi Vieira, Outi Saarenpää-Heikkilä, Johanna Palmio, Hannu Tuominen, Pietari Kinnunen, Kari Majamaa, Heikki Rantala, Johanna Uusimaa
JIMD Rep. 2015; 23: 91–100. Published online 2015 May 5. doi: 10.1007/8904_2015_438
PMCID:
PMC4484910
AbstractArticlePDF–405K
3.
Mitochondrial DNA Depletion Reduces PARP-1 Levels and Promotes Progression of the Neoplastic Phenotype in Prostate Carcinoma
Loredana Moro, Arnaldo A. Arbini, Ersilia Marra, Margherita Greco
Cell Oncol. 2008; 30(4): 307–322. Published online 2008 Jul 1. doi: 10.3233/CLO-2008-0427
PMCID:
PMC4618976
AbstractPDF–433K
4.
The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase
Elisa Franzolin, Cristiano Salata, Vera Bianchi, Chiara Rampazzo
J Biol Chem. 2015 Oct 23; 290(43): 25986–25996. Published online 2015 Sep 4. doi: 10.1074/jbc.M115.675082
PMCID:
PMC4646252
AbstractArticlePDF–1.1M
5.
Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth
Jennifer J. Rahn, Jennifer E. Bestman, Krista D. Stackley, Sherine S.L. Chan
Nucleic Acids Res. 2015 Dec 2; 43(21): 10338–10352. Published online 2015 Oct 30. doi: 10.1093/nar/gkv1139
PMCID:
PMC4666367
AbstractArticlePDF–5.6M
6.
Mitochondrial DNA Depletion in Respiratory Chain–Deficient Parkinson Disease Neurons
Anne Grünewald, Karolina A. Rygiel, Philippa D. Hepplewhite, Christopher M. Morris, Martin Picard, Doug M. Turnbull
Ann Neurol. 2016 Mar; 79(3): 366–378. Published online 2016 Jan 28. doi: 10.1002/ana.24571
PMCID:
PMC4819690
AbstractArticlePDF–819K
7.
Functional Cellular Analyses Reveal Energy Metabolism Defect and Mitochondrial DNA Depletion in a Case of Mitochondrial Aconitase Deficiency
Roa Sadat, Emanuele Barca, Ruchi Masand, Taraka Donti, Ali Naini, Darryl C. De Vivo, Salvatore DiMauro, Neil A. Hanchard, Brett H. Graham
Mol Genet Metab. Author manuscript; available in PMC 2017 May 1.
Published in final edited form as: Mol Genet Metab. 2016 May; 118(1): 28–34. Published online 2016 Mar 8. doi: 10.1016/j.ymgme.2016.03.004
PMCID:
PMC4833660
AbstractArticlePDF–826K
8.
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
Joonil Kim, Eungu Kang, Yoonmyung Kim, Jae-Min Kim, Beom Hee Lee, Kei Murayama, Gu-Hwan Kim, In Hee Choi, Kyung Mo Kim, Han-Wook Yoo
Mol Genet Metab Rep. 2016 Sep; 8: 74–76. Published online 2016 Aug 4. doi: 10.1016/j.ymgmr.2016.06.006
PMCID:
PMC4976613
AbstractArticlePDF–502K
9.
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome
Thanes Termglinchan, Seito Hisamatsu, Junko Ohmori, Hiroshi Suzumura, Noriko Sumitomo, George Imataka, Osamu Arisaka, Nobuyuki Murakami, Narihiro Minami, Ishiyama Akihiko, Masayuki Sasaki, Yuichi Goto, Satoru Noguchi, Ikuya Nonaka, Satomi Mitsuhashi, Ichizo Nishino
Neurol Genet. 2016 Oct; 2(5): e95. Published online 2016 Sep 14. doi: 10.1212/NXG.0000000000000095
PMCID:
PMC5024793
ArticlePDF–500K
10.
Mitochondrial DNA depletion causes decreased ROS production and resistance to apoptosis
Hulin Chen, Junling Wang, Zhongrong Liu, Huilan Yang, Yingjie Zhu, Minling Zhao, Yan Liu, Miaomiao Yan
Int J Mol Med. 2016 Oct; 38(4): 1039–1046. Published online 2016 Aug 3. doi: 10.3892/ijmm.2016.2697
PMCID:
PMC5029958
AbstractArticlePDF–1.9M
11.
Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an Infant with Fulminant Hepatic Failure and Mitochondrial DNA Depletion
Hemant Varma, Phyllis L. Faust, Alejandro D. Iglesias, Stephen M. Lagana, Karen Wou, Michio Hirano, Salvatore DiMauro, Mahesh M. Mansukani, Kirsten E. Hoff, Peter L. Nagy, William C. Copeland, Ali B. Naini
Eur J Med Genet. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Eur J Med Genet. 2016 Oct; 59(10): 540–545. Published online 2016 Aug 31. doi: 10.1016/j.ejmg.2016.08.012
PMCID:
PMC5045816
AbstractArticlePDF–2.1M
12.
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray
Mol Genet Metab Rep. 2014; 1: 223–231. Published online 2014 May 10. doi: 10.1016/j.ymgmr.2014.04.006
PMCID:
PMC5121303
AbstractArticlePDF–1.3M
13.
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
Megan L. Landsverk, Victor Wei Zhang, Lee-Jun C. Wong, Hans C. Andersson
Mol Genet Metab Rep. 2014; 1: 451–454. Published online 2014 Oct 14. doi: 10.1016/j.ymgmr.2014.09.007
PMCID:
PMC5121340
AbstractArticlePDF–655K
14.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion
Xiaoping Huang, Jirair K. Bedoyan, Didem Demirbas, David J. Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D. DeBrosse, Lee-Jun Wong, Charles L. Hoppel, Douglas S. Kerr, Irina Anselm, Gerard T. Berry
Mol Genet Metab. Author manuscript; available in PMC 2018 Mar 1.
Published in final edited form as: Mol Genet Metab. 2017 Mar; 120(3): 213–222. Published online 2016 Nov 12. doi: 10.1016/j.ymgme.2016.11.005
PMCID:
PMC5346465
AbstractArticlePDF–1.6M
15.
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion
Ghadi Antoun, Skye McBride, Jason R. Vanstone, Turaya Naas, Jean Michaud, Stephanie Redpath, Hugh J. McMillan, Jason Brophy, Hussein Daoud, Pranesh Chakraborty, David Dyment, Martin Holcik, Mary-Ellen Harper, Matthew A. Lines
JIMD Rep. 2016; 27: 1–9. Published online 2015 Sep 25. doi: 10.1007/8904_2015_491
PMCID:
PMC5580732
AbstractArticlePDF–623K
16.
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene
Weiyuan Fang, Peng Song, Xinbao Xie, Jianshe Wang, Yi Lu, Gang Li, Kuerbanjiang Abuduxikuer
Oncotarget. 2017 Oct 13; 8(48): 84309–84319. Published online 2017 Sep 15. doi: 10.18632/oncotarget.20905
PMCID:
PMC5663597
AbstractArticlePDF–2.0M
17.
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential
Vasily D. Antonenkov, Antti Isomursu, Daniela Mennerich, Miia H. Vapola, Hans Weiher, Thomas Kietzmann, J. Kalervo Hiltunen
J Biol Chem. 2015 May 29; 290(22): 13840–13861. Published online 2015 Apr 10. doi: 10.1074/jbc.M114.608083
PMCID:
PMC4447960
AbstractArticlePDF–3.7M
18.
Mitochondrial DNA depletion by ethidium bromide decreases neuronal mitochondrial creatine kinase: Implications for striatal energy metabolism
Emily Booth Warren, Aidan Edward Aicher, Joshua Patrick Fessel, Christine Konradi
PLoS One. 2017; 12(12): e0190456. Published online 2017 Dec 29. doi: 10.1371/journal.pone.0190456
PMCID:
PMC5747477
AbstractArticlePDF–3.9M
19.
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited
Clifford Qualls, Mario Kornfeld, Nancy Joste, Abdul-Mehdi Ali, Otto Appenzeller
eNeurologicalSci. 2016 Mar; 2: 8–13. Published online 2016 Jan 28. doi: 10.1016/j.ensci.2016.01.004
PMCID:
PMC5818138
AbstractArticlePDF–745K
20.
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease
Veronika Boczonadi, Martin S. King, Anthony C. Smith, Monika Olahova, Boglarka Bansagi, Andreas Roos, Filmon Eyassu, Christoph Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G. Whittaker, Angela Pyle, Helen Griffin, Robert W. Taylor, Patrick F. Chinnery, Alan J. Robinson, Edmund R.S. Kunji, Rita Horvath
Genet Med. Author manuscript; available in PMC 2018 Nov 27.
Published in final edited form as: Genet Med. 2018 Oct; 20(10): 1224–1235. Published online 2018 Mar 8. doi: 10.1038/gim.2017.251
Correction in:
Genet Med. 2019; 21(9): 2163–2164.
PMCID:
PMC6004311
AbstractArticlePDF–2.1M

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