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Select item 55807371.

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Jillian P. Casey, Ellen Crushell, Kyle Thompson, Eilish Twomey, Langping He, Sean Ennis, Roy K. Philip, Robert W. Taylor, Mary D. King, Sally Ann Lynch

JIMD Rep. 2016; 26: 13–19. Published online 2015 Aug 4. doi: 10.1007/8904_2015_479

PMCID:: PMC5580737

Abstract Article PDF–307K

Select item 51869032.

Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control

Christina Glytsou, Enrique Calvo, Sara Cogliati, Arpit Mehrotra, Irene Anastasia, Giovanni Rigoni, Andrea Raimondi, Norihito Shintani, Marta Loureiro, Jesùs Vazquez, Luca Pellegrini, Jose Antonio Enriquez, Luca Scorrano, Maria Eugenia Soriano

Cell Rep. 2016 Dec 13; 17(11): 3024–3034. Published online 2016 Dec 13. doi: 10.1016/j.celrep.2016.11.049

PMCID:: PMC5186903

Abstract Article

Select item 60751913.

Editor’s Highlight: Base Excision Repair Variants and Pesticide Exposure Increase Parkinson’s Disease Risk

Laurie H. Sanders, Kimberly C. Paul, Evan H. Howlett, Hakeem Lawal, Sridhar Boppana, Jeff M. Bronstein, Beate Ritz, J. Timothy Greenamyre

Toxicol Sci. 2017 Jul; 158(1): 188–198. Published online 2017 Apr 29. doi: 10.1093/toxsci/kfx086

PMCID:: PMC6075191

Abstract Article PDF–345K

Select item 59185684.

DNA barcoding of morphologically characterized mosquitoes belonging to the subfamily Culicinae from Sri Lanka

Thilini Chathurika Weeraratne, Sinnathamby Noble Surendran, S. H. P. Parakrama Karunaratne

Parasit Vectors. 2018; 11: 266. Published online 2018 Apr 25. doi: 10.1186/s13071-018-2810-z

PMCID:: PMC5918568

Abstract Article PDF–1.3M

Select item 58243935.

TAT‐MTS‐MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM‐deficient cells

Tal Erlich‐Hadad, Rita Hadad, Anat Feldman, Hagar Greif, Michal Lictenstein, Haya Lorberboum‐Galski

J Cell Mol Med. 2018 Mar; 22(3): 1601–1613. Published online 2017 Dec 19. doi: 10.1111/jcmm.13435

PMCID:: PMC5824393

Abstract Article PDF–574K

Select item 58222126.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Ewen W. Sommerville, Yi Shiau Ng, Charlotte L. Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L. Chin, Andrew M. Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A. Bindoff, John M. Rawles, John C. S. Dean, Richard K. Petty, Maria E. Farrugia, Tobias B. Haack, Holger Prokisch, Robert McFarland, Douglass M. Turnbull, Claudia Donnini, Robert W. Taylor, Gráinne S. Gorman

JAMA Neurol. 2017 Jun; 74(6): 686–694. Published online 2017 Apr 10. doi: 10.1001/jamaneurol.2016.4357

PMCID:: PMC5822212

Abstract Article

Select item 57803017.

The genotypic and phenotypic spectrum of MTO1 deficiency

James J. O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K. Ozgul, Peter Freisinger, Ian Garber, Tobias B. Haack, Rita Horvath, Ivo Barić, Ralf A. Husain, Leo A.J. Kluijtmans, Urania Kotzaeridou, Andrew A. Morris, Colin J. Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B. Wortmann, Johannes A. Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W. Wasserman, Ron A. Wevers, Udo F. Engelke, Richard J. Rodenburg, Teck Wah Ting, Robert McFarland, Robert W. Taylor, Ramona Salvarinova, Clara D.M. van Karnebeek

Mol Genet Metab. 2018 Jan; 123(1): 28–42. doi: 10.1016/j.ymgme.2017.11.003

PMCID:: PMC5780301

Abstract Article PDF–659K

Select item 56412478.

BRAF inhibitors amplify the pro-apoptotic activity of MEK inhibitors by inducing ER stress in NRAS-mutant melanoma

Heike Niessner, Tobias Sinnberg, Corinna Kosnopfel, Keiran S. M. Smalley, Daniela Beck, Christian Praetorius, Marion Mai, Stefan Beissert, Dagmar Kulms, Martin Schaller, Claus Garbe, Keith T. Flaherty, Dana Westphal, Ines Wanke, Friedegund Meier

Clin Cancer Res. Author manuscript; available in PMC 2018 Oct 15.

Published in final edited form as: Clin Cancer Res. 2017 Oct 15; 23(20): 6203–6214. Published online 2017 Jul 19. doi: 10.1158/1078-0432.CCR-17-0098

PMCID:: PMC5641247

Abstract Article PDF–1.6M

Select item 56301649.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

René G. Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. D’Souza, Robert Kopajtich, Charlotte L. Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M. Strom, Saskia B. Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F. Chinnery, Zofia M. Chrzanowska-Lightowlers, Robert N. Lightowlers, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P. Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A. Mayr, Robert W. Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch

Am J Hum Genet. 2017 Oct 5; 101(4): 525–538. Published online 2017 Sep 21. doi: 10.1016/j.ajhg.2017.08.015

PMCID:: PMC5630164

Abstract Article PDF–1.7M

Select item 617679610.

Intratumoral heterogeneity of oxygen metabolism and neovascularization uncovers 2 survival-relevant subgroups of IDH1 wild-type glioblastoma

Andreas Stadlbauer, Max Zimmermann, Arnd Doerfler, Stefan Oberndorfer, Michael Buchfelder, Roland Coras, Melitta Kitzwögerer, Karl Roessler

Neuro Oncol. 2018 Oct; 20(11): 1536–1546. Published online 2018 Apr 28. doi: 10.1093/neuonc/noy066

PMCID:: PMC6176796

Abstract Article PDF–829K

Select item 516670011.

Uncovering effects of antibiotics on the host and microbiota using transkingdom gene networks

Andrey Morgun, Amiran Dzutsev, Xiaoxi Dong, Renee L Greer, D Joseph Sexton, Jacques Ravel, Martin Schuster, William Hsiao, Polly Matzinger, Natalia Shulzhenko

Gut. Author manuscript; available in PMC 2016 Dec 19.

Published in final edited form as: Gut. 2015 Nov; 64(11): 1732–1743. Published online 2015 Jan 22. doi: 10.1136/gutjnl-2014-308820

PMCID:: PMC5166700

Abstract Article PDF–893K

Select item 512307612.

Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease

Sandra Torres, Nuria Matías, Anna Baulies, Susana Nuñez, Cristina Alarcon-Vila, Laura Martinez, Natalia Nuño, Anna Fernandez, Joan Caballeria, Thierry Levade, Alba Gonzalez-Franquesa, Pablo Garcia-Rovés, Elisa Balboa, Silvana Zanlungo, Gemma Fabrías, Josefina Casas, Carlos Enrich, Carmen Garcia-Ruiz, José C. Fernández-Checa

Redox Biol. 2017 Apr; 11: 60–72. Published online 2016 Nov 20. doi: 10.1016/j.redox.2016.11.010

PMCID:: PMC5123076

Abstract Article PDF–2.0M

Select item 510334213.

Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNA

Adriana Malena, Boris Pantic, Doriana Borgia, Gianluca Sgarbi, Giancarlo Solaini, Ian J. Holt, Antonella Spinazzola, Egle Perissinotto, Marco Sandri, Alessandra Baracca, Lodovica Vergani

Autophagy. 2016; 12(11): 2098–2112. Published online 2016 Sep 14. doi: 10.1080/15548627.2016.1226734

PMCID:: PMC5103342

Abstract Article PDF–1.3M

Select item 506637014.

Mitochondrial dysfunction in myofibrillar myopathy

Amy E. Vincent, John P. Grady, Mariana C. Rocha, Charlotte L. Alston, Karolina A. Rygiel, Rita Barresi, Robert W. Taylor, Doug M. Turnbull

Neuromuscul Disord. 2016 Oct; 26(10): 691–701. doi: 10.1016/j.nmd.2016.08.004

PMCID:: PMC5066370

Abstract Article

Select item 506522915.

High Ancient Genetic Diversity of Human Lice, Pediculus humanus, from Israel Reveals New Insights into the Origin of Clade B Lice

Nadia Amanzougaghene, Kosta Y. Mumcuoglu, Florence Fenollar, Shir Alfi, Gonca Yesilyurt, Didier Raoult, Oleg Mediannikov

PLoS One. 2016; 11(10): e0164659. Published online 2016 Oct 14. doi: 10.1371/journal.pone.0164659

PMCID:: PMC5065229

Abstract Article PDF–1.7M

Select item 506327516.

Adjusting MtDNA Quantification in Whole Blood for Peripheral Blood Platelet and Leukocyte Counts

Yamilee Hurtado-Roca, Marta Ledesma, Monica Gonzalez-Lazaro, Raquel Moreno-Loshuertos, Patricio Fernandez-Silva, Jose Antonio Enriquez, Martin Laclaustra

PLoS One. 2016; 11(10): e0163770. Published online 2016 Oct 13. doi: 10.1371/journal.pone.0163770

PMCID:: PMC5063275

Abstract Article PDF–1.8M

Select item 494021717.

Association Between Mitochondrial DNA Haplogroup and Myelodysplastic Syndromes

Jenny N. Poynter, Michaela Richardson, Erica Langer, Anthony J. Hooten, Michelle Roesler, Betsy Hirsch, Phuong L. Nguyen, Adina Cioc, Erica Warlick, Julie A. Ross

Genes Chromosomes Cancer. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Genes Chromosomes Cancer. 2016 Sep; 55(9): 688–693. Published online 2016 Jun 21. doi: 10.1002/gcc.22370

PMCID:: PMC4940217

Abstract Article PDF–77K

Select item 664632018.

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Masaru Shimura, Naoko Nozawa, Minako Ogawa-Tominaga, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Takuya Ishii, Kiwamu Takahashi, Tohru Tanaka, Motowo Nakajima, Yasushi Okazaki, Akira Ohtake, Kei Murayama

Sci Rep. 2019; 9: 10549. Published online 2019 Jul 22. doi: 10.1038/s41598-019-46772-x

PMCID:: PMC6646320

Abstract Article PDF–2.2M

Select item 714087419.

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality

Corinne Gurtner, Petra Hug, Miriam Kleiter, Kernt Köhler, Elisabeth Dietschi, Vidhya Jagannathan, Tosso Leeb

Genes (Basel) 2020 Mar; 11(3): 313. Published online 2020 Mar 14. doi: 10.3390/genes11030313

PMCID:: PMC7140874

Abstract Article PDF–2.6M

Select item 713263020.

Therapeutic strategies for diffuse midline glioma from high-throughput combination drug screening

Grant L. Lin, Kelli M. Wilson, Michele Ceribelli, Benjamin Z. Stanton, Pamelyn J. Woo, Sara Kreimer, Elizabeth Y. Qin, Xiaohu Zhang, James Lennon, Surya Nagaraja, Patrick J. Morris, Michael Quezada, Shawn M. Gillespie, Damien Y. Duveau, Aleksandra M. Michalowski, Paul Shinn, Rajarshi Guha, Marc Ferrer, Carleen Klumpp-Thomas, Sam Michael, Crystal McKnight, Paras Minhas, Zina Itkin, Eric H. Raabe, Lu Chen, Reem Ghanem, Anna Geraghty, Lijun Ni, Katrin Andreasson, Nicholas A. Vitanza, Katherine E. Warren, Craig J. Thomas, Michelle Monje

Sci Transl Med. Author manuscript; available in PMC 2020 Apr 6.

Published in final edited form as: Sci Transl Med. 2019 Nov 20; 11(519): eaaw0064. doi: 10.1126/scitranslmed.aaw0064

PMCID:: PMC7132630

Abstract Article PDF–3.0M

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