The homozygous R504C mutation inMTO1gene is responsible for ONCE syndrome-Reference-Cited by-同舟云学术

The homozygous R504C mutation inMTO1gene is responsible for ONCE syndrome

Published:2016-07-04 Issue:1 Volume:91 Page:46-53
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Martín M.Á.¹²,García-Silva M.T.¹³⁴,Barcia G.⁵,Delmiro A.¹²,Rodríguez-García M.E.²,Blázquez A.¹²,Francisco-Álvarez R.⁶,Martín-Hernández E.³⁴,Quijada-Fraile P.³⁴,Tejada-Palacios P.⁷,Arenas J.¹²,Santos C.⁶,Martínez-Azorín F.¹²

Affiliation:

1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Madrid Spain

2. Laboratorio de Enfermedades Mitocondriales; Instituto de Investigación Hospital 12 de Octubre (i+12); Madrid Spain

3. Unidad de Enfermedades Metabólicas Hereditarias, Hospital 12 de Octubre; Madrid Spain

4. Facultad de Medicina; Universidad Complutense de Madrid (UCM); Madrid Spain

5. Department of Genetics; Hôpital Necker-Enfants-Malades; Paris France

6. Universidad Francisco de Vitoria; Facultad de Ciencias Experimentales; Madrid Spain

7. Departamento de Oftalmología; Hospital 12 de Octubre; Madrid Spain

Funder

Spanish Instituto de Salud Carlos III (ISCIII)

European Regional Development Fund (ERDF)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12815/fullpdf

Reference13 articles.

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2. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast;Baruffini;Hum Mutat,2013

3. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy;Kopajtich;Am J Hum Genet,2014

4. Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease;Powell;Front Genet,2015

5. MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention;Tischner;Hum Mol Genet,2015

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