Pyruvate Dehydrogenase Phosphatase Deficiency
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1790-1
Reference7 articles.
1. Bedoyan JK et al (2019) A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. JIMD Rep 48:26–35. https://doi.org/10.1002/jmd2.12054
2. Cameron JM et al (2009) Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet 125:319–326. https://doi.org/10.1007/s00439-009-0629-6
3. Huang B, Gudi R, Wu P, Harris RA, Hamilton J, Popov KM (1998) Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino acid sequences, expression, and regulation. J Biol Chem 273:17680–17688. https://doi.org/10.1074/jbc.273.28.17680
4. Huang B, Wu P, Popov KM, Harris RA (2003) Starvation and diabetes reduce the amount of pyruvate dehydrogenase phosphatase in rat heart and kidney. Diabetes 52:1371–1376. https://doi.org/10.2337/diabetes.52.6.1371
5. Maj MC et al (2005) Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab 90:4101–4107. https://doi.org/10.1210/jc.2005-0123
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