Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion-Reference-Cited by-同舟云学术

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

Published:2020-06-02 Issue:1 Volume:54 Page:45-53
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Cotta Ana¹^ORCID,Alston Charlotte L.²³^ORCID,Baptista‐Junior Sidney¹,Paim Julia F.¹,Carvalho Elmano⁴,Navarro Monica M.⁵,Appleton Marie⁶,Ng Yi Shiau²³,Valicek Jaquelin⁴,da‐Cunha‐Junior Antonio L.⁷,Lima Maria I.⁸,Rocque Ferreira Alessandra⁹,Takata Reinaldo I.⁹,Hargreaves Iain P.¹⁰¹¹,Gorman Gráinne S.²³,McFarland Robert²³,Pierre Germaine¹²,Taylor Robert W.²³^ORCID

Affiliation:

1. Department of PathologySARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil

2. Wellcome Centre for Mitochondrial ResearchTranslational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University Newcastle upon Tyne UK

3. NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria InfirmaryNewcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

4. Department of NeurophysiologySARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil

5. Department of Pediatrics and GeneticsSARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil

6. Clinical Biochemistry, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

7. Department of RadiologySARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil

8. Department of Electron MicroscopySARAH Network of Rehabilitation Hospitals Brasília Brazil

9. Department of Molecular BiologySARAH Network of Rehabilitation Hospitals Brasília Brazil

10. Neurometabolic UnitNational Hospital for Neurology and Neurosurgery London UK

11. School of Pharmacy and Biomolecular Sciences, Liverpool John Moores University Liverpool UK

12. South West Regional Metabolic DepartmentBristol Royal Hospital for Children Bristol UK

Funder

University of Kentucky

Newcastle upon Tyne Hospitals NHS Foundation Trust

NIHR Newcastle Biomedical Research Centre

Wellcome Trust Centre for Mitochondrial Research

National Institute for Health Research

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12107

Reference30 articles.

1. Coenzyme Q and mitochondrial disease

2. Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

3. Biochemistry of Mitochondrial Coenzyme Q Biosynthesis

4. Lovastatin decreases coenzyme Q levels in humans.

5. Clinical presentation and proteomic signature of patients with TANGO2 mutations

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