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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

author

Miguel Angel Martín

Giulia Barcia

Blázquez A

Joaquín Arenas

Cruz Santos

Francisco Martínez-Azorín

published in: Clinical Genetics

date of publication: 2016-07-04

Cites articles 12

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Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease

Christopher A. Powell, Thomas J Nicholls, Michał Mińczuk
2015-06-10

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant

Valérie Desquiret-Dumas, Naïg Gueguen, Vincent Procaccio, Guy Lenaers, Majida Charif
2014-11-26

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Thomas Meitinger, Arnold Munnich, Rosalba Carrozzo, Ann Saada, Johannes A Mayr, Enrico Bertini, Thomas J Nicholls, Metodi D Metodiev, Christopher A. Powell, Joanna Rorbach, Masakazu Kohda, Michał Mińczuk, Federica Invernizzi, Eleonora Lamantea, Daniele Ghezzi, Holger Prokisch, Agnès Rötig, Angela Pyle, Patrick F. Chinnery, Massimo Zeviani, Robert William Taylor, Björn Menten, Tobias B Haack, Thomas Wieland, Thomas Klopstock, Tim M Strom, Peter Freisinger, Robert Kopajtich, Kei Murayama, Yasushi Okazaki, Thomas Schwarzmayr, Arnaud V Vanlander, Akira Ohtake, Joél Smet, Rudy Van Coster, Ewen W Sommerville, Hanna Mandel, Yoshihito Kishita
2014-12-30

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

Lore Becker, Zofia M Chrzanowska-Lightowlers, Holger Prokisch, Martin Hrabě de Angelis, Wolfgang Wurst, Thomas Klopstock, Iulia Dumitru, Thomas Floss
2014-12-24

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Jordi Muchart, Ignacio Málaga, Joaquín Arenas, Miguel Angel Martín
2014-07-01

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Cristina Dallabona, Enrico Baruffini, Federica Invernizzi, Claudia Donnini, Eleonora Lamantea, Daniele Ghezzi, Holger Prokisch, Emma L. Blakely, Massimo Zeviani, Robert William Taylor
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Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

Miguel Angel Martín, Joaquín Arenas, Francisco Martínez-Azorín, Ana Moreno-Izquierdo
2012-05-17

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

Thomas Meitinger, Cristina Dallabona, Enrico Baruffini, Federica Invernizzi, Rossella Parini, Daniele Ghezzi, Holger Prokisch, Massimo Zeviani, Tobias B Haack, Tim M Strom, Ileana Ferrero, Laura Melchionda
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Conserved cysteine residues of GidA are essential for biogenesis of 5-carboxymethylaminomethyluridine at tRNA anticodon

Osamu Nureki, Kozo Tomita
2008-07-11

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Autoantibodies to folate receptors in the cerebral folate deficiency syndrome

Nenad Blau, Jacob Selhub

Article - wd:Q39713454

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