A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency-Reference-Cited by-同舟云学术

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

Published:2017-11-08 Issue:1 Volume:39 Page:69-79
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Malicdan May Christine V.¹²^ORCID,Vilboux Thierry²³,Ben‐Zeev Bruria⁴⁵⁶,Guo Jennifer¹,Eliyahu Aviva⁷⁵,Pode‐Shakked Ben⁷⁸⁵,Dori Amir⁸⁵⁹¹⁰,Kakani Sravan²,Chandrasekharappa Settara C.¹¹^ORCID,Ferreira Carlos R.²,Shelestovich Natalia⁵¹²,Marek‐Yagel Dina⁷⁵⁶,Pri‐Chen Hadass²¹³,Blatt Ilan¹⁰,Niederhuber John E.³¹⁴,He Langping¹⁵,Toro Camilo¹,Taylor Robert W.¹⁵,Deeken John³,Yardeni Tal¹⁶,Wallace Douglas C.¹⁶,Gahl William A.¹²,Anikster Yair⁷⁵⁶

Affiliation:

1. NIH Undiagnosed Diseases Program Common Fund Office of the Director NIH and Office of the Clinical Director National Human Genome Research Institute NIH Bethesda 20892 Maryland USA

2. Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda 20892 Maryland USA

3. Inova Translational Medicine Institute Falls Church 22042 Virginia USA

4. Pediatric Neurology Unit Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel‐Hashomer 22042 Israel

5. Sackler Faculty of Medicine Tel‐Aviv University Tel‐Aviv 69978 Israel

6. The Wohl Institute for Translational Medicine Sheba Medical Center Tel‐Hashomer 52621 Israel

7. Metabolic Disease Unit Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel‐Hashomer 5621 Israel

8. The Dr. Pinchas Borenstein Talpiot Medical Leadership Program Sheba Medical Center Tel‐Hashomer 5621 Israel

9. Joseph Sagol Neuroscience Center Sackler Faculty of Medicine Tel Aviv University Tel Aviv 69978 Israel

10. Department of Neurology Sheba Medical Center Tel‐Hashomer 5621 Israel

11. Cancer Genetics and Comparative Genomics Branch National Human Genome Research Institute National Institutes of Health Bethesda 20892 Maryland USA

12. Department of Pathology Sheba Medical Center Tel‐Hashomer 52621 Israel

13. Graduate Partnership Program (GPP) National Institute of Health (NIH) Bethesda 20892 Maryland USA

14. Johns Hopkins University School of Medicine 733 North Broadway Street Baltimore MD USA

15. Wellcome Centre for Mitochondrial Research Institute of Neuroscience The Medical School Newcastle University Newcastle upon Tyne UK

16. Center for Mitochondrial and Epigenomic Medicine Children's Hospital of Philadelphia Research Institute Philadelphia USA

Funder

National Institutes of Health

U.S. Department of Defense

Medical Research Council

Wellcome Trust

NIH Office of the Director

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23345

Reference61 articles.

1. Coenzyme Q biosynthesis in health and disease

2. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

3. Yeast Coq5 C-Methyltransferase Is Required for Stability of Other Polypeptides Involved in Coenzyme Q Biosynthesis

4. ANO10 mutations cause ataxia and coenzyme Q10 deficiency

5. Characterization of the COQ5 Gene from Saccharomyces cerevisiae EVIDENCE FOR A C-METHYLTRANSFERASE IN UBIQUINONE BIOSYNTHESIS

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