MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast-Reference-Cited by-同舟云学术

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Published:2013-09-17 Issue:11 Volume:34 Page:1501-1509
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Baruffini Enrico¹,Dallabona Cristina¹,Invernizzi Federica²,Yarham John W.³,Melchionda Laura²,Blakely Emma L.³,Lamantea Eleonora²,Donnini Claudia¹,Santra Saikat⁴,Vijayaraghavan Suresh⁴,Roper Helen P.⁵,Burlina Alberto⁶,Kopajtich Robert⁷⁸,Walther Anett⁷⁸,Strom Tim M.⁷⁸,Haack Tobias B.⁷⁸,Prokisch Holger⁷⁸,Taylor Robert W.³,Ferrero Ileana¹,Zeviani Massimo⁹,Ghezzi Daniele²

Affiliation:

1. Department of Life Sciences; University of Parma; Parma Italy

2. Unit of Molecular Neurogenetics; Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico “CarloBesta”; Milan Italy

3. Wellcome Trust Centre for Mitochondrial Research; Institute for Ageing and Health, Newcastle University; Newcastle upon Tyne UK

4. Department of Clinical Inherited Metabolic Disorders; Birmingham Children's Hospital NHS Foundation Trust; Birmingham UK

5. Department of Child Health; Heart of England NHS Foundation Trust; Birmingham UK

6. Division of Inborn Errors of Metabolism; Department of Paediatrics, University Hospital; Padua Italy

7. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany

8. Institute of Human Genetics; Technische Universitat München; Munich Germany

9. MRC Mitochondrial Biology Unit; Cambridge UK

Funder

Italian Ministry of Health

Fondazione Telethon

CARIPLO

Pierfranco and Luisa Mariani Foundation of Italy

Italian Association of Mitochondrial Disease Patients and Families (Mitocon)

German Federal Ministry of Education and Research (BMBF)

German Network for Mitochondrial Disorders

GenoMit

EU FP7 Mitochondrial European Educational Training project (Meet)

Medical Research Council (UK)

A Wellcome Trust Strategic Award

UK NHS Specialist Commissioners

Medical Research Council (UK) Centenary Early Career Award

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22393/fullpdf

Reference36 articles.

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2. Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays;Barrientos;Curr Protoc Hum Genet,2009

3. A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors;Bonneaud;Yeast,1991

4. Clinical and molecular findings in children with complex I deficiency;Bugiani;Biochim Biophys Acta,2004

5. MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae;Colby;J Biol Chem,1998

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