PMC Links for Nucleotide (Select 1677530737) - PMC

Select item 58914911.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Rick Kamps, Radek Szklarczyk, Tom E. Theunissen, Debby M. E. I. Hellebrekers, Suzanne C. E. H. Sallevelt, Iris B. Boesten, Bart de Koning, Bianca J. van den Bosch, Gajja S. Salomons, Marisa Simas-Mendes, Rob Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Jo M. Vanoevelen, Hubert J. M. Smeets

Eur J Hum Genet. 2018 Apr; 26(4): 537–551. Published online 2018 Feb 13. doi: 10.1038/s41431-017-0058-2

PMCID:: PMC5891491

Abstract Article PDF–1.1M

Select item 57803012.

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 57736093.

Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

Rachid Boutoual, Salvador Meseguer, Magda Villarroya, Elena Martín-Hernández, Mohammed Errami, Miguel A. Martín, Marta Casado, M.-Eugenia Armengod

Sci Rep. 2018; 8: 1163. Published online 2018 Jan 18. doi: 10.1038/s41598-018-19587-5

PMCID:: PMC5773609

Abstract Article PDF–5.2M

Select item 55247534.

microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases

Salvador Meseguer, Olga Boix, Carmen Navarro-González, Magda Villarroya, Rachid Boutoual, Sonia Emperador, Elena García-Arumí, Julio Montoya, M.-Eugenia Armengod

Sci Rep. 2017; 7: 6209. Published online 2017 Jul 24. doi: 10.1038/s41598-017-06553-w

PMCID:: PMC5524753

Abstract Article PDF–5.3M

Select item 33702785.

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, Federica Invernizzi, Laura Melchionda, Cristina Dallabona, Tim M. Strom, Rossella Parini, Alberto B. Burlina, Thomas Meitinger, Holger Prokisch, Ileana Ferrero, Massimo Zeviani

Am J Hum Genet. 2012 Jun 8; 90(6): 1079–1087. doi: 10.1016/j.ajhg.2012.04.011

PMCID:: PMC3370278

Abstract Article PDF–767K

Select item 26891546.

Large-scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval

M. M. Abd El-Aziz, I. Barragan, C. O’Driscoll, S. Borrego, L. Abu-Safieh, J. I. Pieras, M. F. El-Ashry, E. Prigmore, N. Carter, G. Antinolo, S. S. Bhattacharya

Ann Hum Genet. Author manuscript; available in PMC 2009 Jun 1.

Published in final edited form as: Ann Hum Genet. 2008 Jul; 72(Pt 4): 463–477. Published online 2007 May 29. doi: 10.1111/j.1469-1809.2008.00455.x

PMCID:: PMC2689154

Abstract Article PDF–617K

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