PubMed (OMIM) for id: 5160

Year	Number of Results
1969	1
1970	1
1971	2
1972	1
1974	2
1975	1
1976	3
1977	1
1980	1
1981	2
1982	1
1984	3
1985	2
1987	2
1988	6
1989	5
1990	3
1991	5
1992	5
1993	6
1994	5
1995	5
1996	1
1997	3
1998	3
1999	2
2000	2
2002	1
2003	1
2004	2
2006	1
2013	1
2016	2
2017	1
2019	1
2024	0

1

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Horga A, Woodward CE, Mills A, Pareés I, Hargreaves IP, Brown RM, Bugiardini E, Brooks T, Manole A, Remzova E, Rahman S, Reilly MM, Houlden H, Sweeney MG, Brown GK, Polke JM, Gago F, Parton MJ, Pitceathly RDS, Hanna MG. Horga A, et al. Hum Genet. 2019 Dec;138(11-12):1313-1322. doi: 10.1007/s00439-019-02075-9. Epub 2019 Oct 31. Hum Genet. 2019. PMID: 31673819 Free PMC article.

2

Pyruvate dehydrogenase has a major role in mast cell function, and its activity is regulated by mitochondrial microphthalmia transcription factor.

Sharkia I, Hadad Erlich T, Landolina N, Assayag M, Motzik A, Rachmin I, Kay G, Porat Z, Tshori S, Berkman N, Levi-Schaffer F, Razin E. Sharkia I, et al. J Allergy Clin Immunol. 2017 Jul;140(1):204-214.e8. doi: 10.1016/j.jaci.2016.09.047. Epub 2016 Nov 18. J Allergy Clin Immunol. 2017. PMID: 27871875

3

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerrière A. Pirot N, et al. J Neuropathol Exp Neurol. 2016 Mar;75(3):227-38. doi: 10.1093/jnen/nlv022. Epub 2016 Feb 9. J Neuropathol Exp Neurol. 2016. PMID: 26865159

4

A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence.

Kaplon J, Zheng L, Meissl K, Chaneton B, Selivanov VA, Mackay G, van der Burg SH, Verdegaal EM, Cascante M, Shlomi T, Gottlieb E, Peeper DS. Kaplon J, et al. Nature. 2013 Jun 6;498(7452):109-12. doi: 10.1038/nature12154. Epub 2013 May 19. Nature. 2013. PMID: 23685455

5

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.

Okajima K, Warman ML, Byrne LC, Kerr DS. Okajima K, et al. Mol Genet Metab. 2006 Feb;87(2):162-8. doi: 10.1016/j.ymgme.2005.09.023. Epub 2006 Jan 18. Mol Genet Metab. 2006. PMID: 16412675

6

A molecular switch and proton wire synchronize the active sites in thiamine enzymes.

Frank RA, Titman CM, Pratap JV, Luisi BF, Perham RN. Frank RA, et al. Science. 2004 Oct 29;306(5697):872-6. doi: 10.1126/science.1101030. Science. 2004. PMID: 15514159

7

A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.

Taylor MR, Hurley JB, Van Epps HA, Brockerhoff SE. Taylor MR, et al. Proc Natl Acad Sci U S A. 2004 Mar 30;101(13):4584-9. doi: 10.1073/pnas.0307074101. Epub 2004 Mar 15. Proc Natl Acad Sci U S A. 2004. PMID: 15070761 Free PMC article.

8

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.

Fouque F, Brivet M, Boutron A, Vequaud C, Marsac C, Zabot MT, Benelli C. Fouque F, et al. Pediatr Res. 2003 May;53(5):793-9. doi: 10.1203/01.PDR.0000057987.46622.64. Epub 2003 Mar 5. Pediatr Res. 2003. PMID: 12621116

9

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.

Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Ogawa Y, Kitamura S, Takada E, Horii Y, Kuroda Y. Naito E, et al. Biochim Biophys Acta. 2002 Oct 9;1588(1):79-84. doi: 10.1016/s0925-4439(02)00142-4. Biochim Biophys Acta. 2002. PMID: 12379317 Free article.

10

Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.

Seyda A, McEachern G, Haas R, Robinson BH. Seyda A, et al. Hum Mol Genet. 2000 Apr 12;9(7):1041-8. doi: 10.1093/hmg/9.7.1041. Hum Mol Genet. 2000. PMID: 10767328

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