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Items: 1 to 20 of 219

1.
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
Gráinne S. Gorman, Andrew M. Schaefer, Yi Ng, Nicholas Gomez, Emma L. Blakely, Charlotte L. Alston, Catherine Feeney, Rita Horvath, Patrick Yu‐Wai‐Man, Patrick F. Chinnery, Robert W. Taylor, Douglass M. Turnbull, Robert McFarland
Ann Neurol. 2015 May; 77(5): 753–759. Published online 2015 Mar 28. doi: 10.1002/ana.24362
PMCID:
PMC4737121
AbstractArticlePDF–99K
2.
Within-Host Selection of Drug Resistance in a Mouse Model Reveals Dose-Dependent Selection of Atovaquone Resistance Mutations
Suci Nuralitha, Lydia S. Murdiyarso, Josephine E. Siregar, Din Syafruddin, Jessica Roelands, Jan Verhoef, Andy I. M. Hoepelman, Sangkot Marzuki
Antimicrob Agents Chemother. 2017 May; 61(5): e01867-16. Prepublished online 2017 Feb 13. Published online 2017 Apr 24. doi: 10.1128/AAC.01867-16
PMCID:
PMC5404568
AbstractArticlePDF–1.0M
3.
Molecular Phylogenetics of Centrocestus formosanus (Digenea: Heterophyidae) Originated from Freshwater Fish from Chiang Mai Province, Thailand
Chalobol Wongsawad, Pheravut Wongsawad, Kom Sukontason, Worawit Maneepitaksanti, Nattawadee Nantarat
Korean J Parasitol. 2017 Feb; 55(1): 31–37. Published online 2017 Feb 28. doi: 10.3347/kjp.2017.55.1.31
PMCID:
PMC5365256
AbstractArticlePDF–809K
4.
Implications of human evolution and admixture for mitochondrial replacement therapy
Lavanya Rishishwar, I. King Jordan
BMC Genomics. 2017; 18: 140. Published online 2017 Feb 8. doi: 10.1186/s12864-017-3539-3
PMCID:
PMC5299762
AbstractArticlePDF–1.9M
5.
Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination
Yi Shiau Ng, Catherine Feeney, Andrew M. Schaefer, Carol Ellen Holmes, Paula Hynd, Charlotte L. Alston, John P. Grady, Mark Roberts, Mellisa Maguire, Alexandra Bright, Robert W. Taylor, Yan Yiannakou, Robert McFarland, Doug M. Turnbull, Gráinne S. Gorman
Ann Neurol. 2016 Nov; 80(5): 686–692. Published online 2016 Sep 19. doi: 10.1002/ana.24736
PMCID:
PMC5215534
AbstractArticlePDF–265K
6.
Antiviral Nucleotide Incorporation by Recombinant Human Mitochondrial RNA Polymerase Is Predictive of Increased In Vivo Mitochondrial Toxicity Risk
Martijn Fenaux, Xiaodong Lin, Fumiaki Yokokawa, Zachary Sweeney, Oliver Saunders, Lili Xie, Siew Pheng Lim, Marianne Uteng, Kyoko Uehara, Robert Warne, Wang Gang, Christopher Jones, Satya Yendluri, Helen Gu, Keith Mansfield, Julie Boisclair, Tycho Heimbach, Alexandre Catoire, Kathryn Bracken, Margaret Weaver, Heinz Moser, Weidong Zhong
Antimicrob Agents Chemother. 2016 Dec; 60(12): 7077–7085. Prepublished online 2016 Sep 19. Published online 2016 Nov 21. doi: 10.1128/AAC.01253-16
PMCID:
PMC5118986
AbstractArticlePDF–1.7M
7.
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders
Shuichi Yatsuga, Yasunori Fujita, Akiko Ishii, Yoshihiro Fukumoto, Hajime Arahata, Tatsuyuki Kakuma, Toshio Kojima, Masafumi Ito, Masashi Tanaka, Reo Saiki, Yasutoshi Koga
Ann Neurol. 2015 Nov; 78(5): 814–823. Published online 2015 Oct 14. doi: 10.1002/ana.24506
PMCID:
PMC5057301
AbstractArticlePDF–478K
8.
Warburg effect linked to cognitive-executive deficits in FMR1 premutation
Eleonora Napoli, Gyu Song, Andrea Schneider, Randi Hagerman, Marwa Abd Al Azaim Eldeeb, Atoosa Azarang, Flora Tassone, Cecilia Giulivi
FASEB J. 2016 Oct; 30(10): 3334–3351. Published online 2016 Jun 22. doi: 10.1096/fj.201600315R
PMCID:
PMC5024697
AbstractArticle
9.
Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy
Paulo Maurício do Amôr Divino Miranda, Sueli Matilde da Silva-Costa, Juliane Cristina Balieiro, Marcela Scabello Amaral Fernandes, Rogério Marins Alves, Andrea Trevas Maciel Guerra, Ana Maria Marcondes, Edi Lúcia Sartorato
Mol Vis. 2016; 22: 1024–1035. Published online 2016 Aug 13.
PMCID:
PMC4982480
AbstractArticlePDF–1.0M
10.
Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk
Nat Commun. 2016; 7: 12039. Published online 2016 Jun 30. doi: 10.1038/ncomms12039
PMCID:
PMC4931328
AbstractArticlePDF–1.0M
11.
A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases
Ryan L. Davis, Christina Liang, Carolyn M. Sue
Neurology. 2016 May 24; 86(21): 2010–2015. doi: 10.1212/WNL.0000000000002705
PMCID:
PMC4887120
AbstractArticlePDF–377K
12.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland
J Inherit Metab Dis. Author manuscript; available in PMC 2016 Apr 22.
Published in final edited form as: J Inherit Metab Dis. 2015 Sep; 38(5): 905–914. Published online 2015 Apr 14. doi: 10.1007/s10545-015-9836-6
PMCID:
PMC4841446
AbstractArticlePDF–481K
13.
Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions
Marco Tigano, Roberta Ruotolo, Cristina Dallabona, Flavia Fontanesi, Antoni Barrientos, Claudia Donnini, Simone Ottonello
Nucleic Acids Res. 2015 Sep 30; 43(17): 8368–8380. Published online 2015 Aug 3. doi: 10.1093/nar/gkv765
PMCID:
PMC4787798
AbstractArticlePDF–6.6M
14.
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck
Ian J. Wilson, Phillipa J. Carling, Charlotte L. Alston, Vasileios I. Floros, Angela Pyle, Gavin Hudson, Suzanne C.E.H. Sallevelt, Costanza Lamperti, Valerio Carelli, Laurence A. Bindoff, David C. Samuels, Passorn Wonnapinij, Massimo Zeviani, Robert W. Taylor, Hubert J.M. Smeets, Rita Horvath, Patrick F Chinnery
Hum Mol Genet. 2016 Mar 1; 25(5): 1031–1041. Published online 2016 Jan 5. doi: 10.1093/hmg/ddv626
PMCID:
PMC4754047
AbstractArticlePDF–688K
15.
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
Francesco Emma, Giovanni Montini, Samir M. Parikh, Leonardo Salviati
Nat Rev Nephrol. Author manuscript; available in PMC 2017 Jun 13.
Published in final edited form as: Nat Rev Nephrol. 2016 May; 12(5): 267–280. Published online 2016 Jan 25. doi: 10.1038/nrneph.2015.214
PMCID:
PMC5469549
AbstractArticlePDF–1.2M
16.
Identification of potential mitochondrial CLPXP protease interactors and substrates suggests its central role in energy metabolism
Fabian Fischer, Julian D. Langer, Heinz D. Osiewacz
Sci Rep. 2015; 5: 18375. Published online 2015 Dec 17. doi: 10.1038/srep18375
PMCID:
PMC4683621
AbstractArticlePDF–1.1M
17.
Hereditary Spastic Paraplegia-Linked REEP1 Modulates ER-Mitochondria Contacts
Youngshin Lim, Il-Taeg Cho, Leah J. Schoel, Ginam Cho, Jeffrey A. Golden
Ann Neurol. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Ann Neurol. 2015 Nov; 78(5): 679–696. Published online 2015 Sep 16. doi: 10.1002/ana.24488
PMCID:
PMC4681538
AbstractArticlePDF–3.4M
18.
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders
Kotaro Ogaki, Shunsuke Koga, Michael G. Heckman, Fabienne C. Fiesel, Maya Ando, Catherine Labbé, Oswaldo Lorenzo-Betancor, Elisabeth L. Moussaud-Lamodière, Alexandra I. Soto-Ortolaza, Ronald L. Walton, Audrey J. Strongosky, Ryan J. Uitti, Allan McCarthy, Timothy Lynch, Joanna Siuda, Grzegorz Opala, Monika Rudzinska, Anna Krygowska-Wajs, Maria Barcikowska, Krzysztof Czyzewski, Andreas Puschmann, Kenya Nishioka, Manabu Funayama, Nobutaka Hattori, Joseph E. Parisi, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Wolfdieter Springer, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross
Neurology. 2015 Dec 8; 85(23): 2016–2025. doi: 10.1212/WNL.0000000000002170
PMCID:
PMC4676755
AbstractArticlePDF–795K
19.
Genetic Predisposition to Weight Loss and Regain With Lifestyle Intervention: Analyses From the Diabetes Prevention Program and the Look AHEAD Randomized Controlled Trials
George D. Papandonatos, Qing Pan, Nicholas M. Pajewski, Linda M. Delahanty, Inga Peter, Bahar Erar, Shafqat Ahmad, Maegan Harden, Ling Chen, Pierre Fontanillas, GIANT Consortium, Lynne E. Wagenknecht, Steven E. Kahn, Rena R. Wing, Kathleen A. Jablonski, Gordon S. Huggins, William C. Knowler, Jose C. Florez, Jeanne M. McCaffery, Paul W. Franks
Diabetes. 2015 Dec; 64(12): 4312–4321. Published online 2015 Aug 7. doi: 10.2337/db15-0441
PMCID:
PMC4657576
AbstractArticlePDF–952K
20.
Delayed Onset of Symptoms and Atovaquone-Proguanil Chemoprophylaxis Breakthrough by Plasmodium malariae in the Absence of Mutation at Codon 268 of pmcytb
Beatrix Huei-Yi Teo, Paul Lansdell, Valerie Smith, Marie Blaze, Debbie Nolder, Khalid B. Beshir, Peter L. Chiodini, Jun Cao, Anna Färnert, Colin J. Sutherland
PLoS Negl Trop Dis. 2015 Oct; 9(10): e0004068. Published online 2015 Oct 20. doi: 10.1371/journal.pntd.0004068
PMCID:
PMC4618945
AbstractArticlePDF–551K

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