Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing-Reference-Cited by-同舟云学术

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Published:2019-06-18 Issue:10 Volume:40 Page:1731-1748
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Saoura Makenzie¹,Powell Christopher A.²,Kopajtich Robert³⁴,Alahmad Ahmad⁵⁶,AL‐Balool Haya H.⁶,Albash Buthaina⁶,Alfadhel Majid⁷,Alston Charlotte L.⁵,Bertini Enrico⁸^ORCID,Bonnen Penelope E.⁹,Bratkovic Drago¹⁰,Carrozzo Rosalba⁸^ORCID,Donati Maria A.¹¹,Di Nottia Michela⁸,Ghezzi Daniele¹²¹³,Goldstein Amy¹⁴,Haan Eric¹⁰,Horvath Rita¹⁵,Hughes Joanne¹⁶,Invernizzi Federica¹²,Lamantea Eleonora¹²,Lucas Benjamin¹,Pinnock Kyla‐Gaye¹,Pujantell Maria¹,Rahman Shamima¹⁷,Rebelo‐Guiomar Pedro²¹⁸,Santra Saikat¹⁹,Verrigni Daniela⁸,McFarland Robert⁴,Prokisch Holger³⁴,Taylor Robert W.⁵^ORCID,Levinger Louis¹,Minczuk Michal²^ORCID

Affiliation:

1. York CollegeThe City University of New York Jamaica New York

2. MRC Mitochondrial Biology UnitUniversity of Cambridge Cambridge UK

3. Genetics of Mitochondrial Disorders, Institute of Human GeneticsTechnische Universität München Munich Germany

4. Genetics of Mitochondrial Disorders, Institute of Human GeneticsHelmholtz Zentrum München Neuherberg Germany

5. Wellcome Centre for Mitochondrial Research, Institute of NeuroscienceNewcastle University Newcastle upon Tyne UK

6. Kuwait Medical Genetics Center Kuwait City Kuwait

7. Genetics Division, Department of Pediatrics, King Abdullah International Medical Research CentreKing Saud bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia

8. Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular MedicineBambino Gesu' Children's Research Hospital, IRCCS Rome Italy

9. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

10. Metabolic ClinicWomen's and Children's Hospital North Adelaide South Australia Australia

11. Metabolic UnitA. Meyer Children's Hospital Florence Italy

12. Unit of Medical Genetics and NeurogeneticsFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

13. Department of Pathophysiology and TransplantationUniversity of Milan Milan Italy

14. Mitochondrial Medicine Frontier ProgramChildren's Hospital of Philadelphia Philadelphia USA

15. Wellcome Centre for Mitochondrial Research, Institute of Genetic MedicineNewcastle University Newcastle upon Tyne UK

16. National Centre for Inherited Metabolic DisordersTemple Street Children's University Hospital Dublin Ireland

17. Mitochondrial Research GroupUCL Great Ormond Street Institute of Child Health London UK

18. Graduate Program in Areas of Basic and Applied BiologyUniversity of PortoPorto Portugal

19. Department of Clinical Inherited Metabolic DisordersBirmingham Children's Hospital Birmingham UK

Funder

Foundation for the National Institutes of Health

Medical Research Council

Wellcome Trust

Biotechnology and Biological Sciences Research Council

National Institute for Health Research

H2020 European Research Council

Newton Fund

Fondazione Telethon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23777

Reference68 articles.

1. A method and server for predicting damaging missense mutations

2. A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

3. A recurrent mitochondrial p.Trp22ArgNDUFB3variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

4. Sequence and organization of the human mitochondrial genome

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