Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis-Reference-Cited by-同舟云学术

Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis

Published:2013-03-06 Issue:175 Volume:5 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Ferriero Rosa¹,Manco Giuseppe²,Lamantea Eleonora³,Nusco Edoardo¹,Ferrante Maria I.⁴,Sordino Paolo⁴,Stacpoole Peter W.⁵,Lee Brendan⁶⁷,Zeviani Massimo³,Brunetti-Pierri Nicola¹⁸

Affiliation:

1. Telethon Institute of Genetics and Medicine, Naples 80131, Italy.

2. Institute of Protein Biochemistry, Naples 80131, Italy.

3. Besta Institute, Milan 20126, Italy.

4. Stazione Zoologica Anton Dohrn, Naples 80121, Italy.

5. Departments of Medicine and Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, FL 32610, USA.

6. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

7. Howard Hughes Institute, Baylor College of Medicine, Houston, TX 77030, USA.

8. Department of Pediatrics, Federico II University of Naples, Naples 80131, Italy.

Abstract

Phenylbutyrate enhances pyruvate dehydrogenase enzyme complex (PDHC) activity through inhibition of PDHC kinase, rescues the severe phenotype of a zebrafish model of PDHC deficiency, and prevents systemic lactic acidosis.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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