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References

These sources were used to develop the Genetics Home Reference gene summary on the PDP1 gene.

Biochemistry (fifth edition, 2002): The Formation of Acetyl Coenzyme A from Pyruvate
Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30. PubMed citation
Entrez Gene
Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. Epub 2005 Apr 26. PubMed citation
OMIM: PYRUVATE DEHYDROGENASE PHOSPHATASE CATALYTIC SUBUNIT 1
Roche TE, Hiromasa Y, Turkan A, Gong X, Peng T, Yan X, Kasten SA, Bao H, Dong J. Essential roles of lipoyl domains in the activated function and control of pyruvate dehydrogenase kinases and phosphatase isoform 1. Eur J Biochem. 2003 Mar;270(6):1050-6. Review. PubMed citation

Reviewed: July 2012

Published: May 13, 2013