| 1 | ALDH1B, PDHA1, PDHA2
|
| Pairwise correlation of genes involved in glucose metabolism: a potential diagnostic marker of cancer?
|
| Sakharkar MK, Rajamanickam K, Ji S, Dhillon SK, Yang J.
|
| Genes Cancer. Jun 17;12:69-76. doi: 10.18632/genesandcancer.216. 2021
|
| 2 | PDHA1
|
| Low expression of PDHA1 predicts poor prognosis in gastric cancer.
|
| Song L, Liu D, Zhang X, Zhu X, Lu X, Huang J, Yang L, Wu Y.
|
| Pathol Res Pract. Mar;215(3):478-482. doi: 10.1016/j.prp.2018.12.038. Epub 2018 Dec 31. 2019
|
| 3 | PDHA1
|
| Alteration of mitochondrial protein PDHA1 in Lewy body disease and PARK14.
|
| Miki Y, Tanji K, Mori F, Kakita A, Takahashi H, Wakabayashi K.
|
| Biochem Biophys Res Commun. Aug 5;489(4):439-444. doi: 10.1016/j.bbrc.2017.05.162. Epub 2017 May 28. 2017
|
| 4 | PDHA1, PDHA2
|
| Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
|
| H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia
|
| Gene. Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22. 2016
|
| 5 | PDHA1
|
| Decreased expression of pyruvate dehydrogenase A1 predicts an unfavorable prognosis in ovarian carcinoma
|
| Li Y, Huang R, Li X, Li X, Yu D, Zhang M, Wen J, Goscinski MA, Trope CG, Nesland JM, Suo Z
|
| Am J Cancer Res. Sep 1;6(9):2076-2087. 2016
|
| 6 | PDHA1, PDHA2
|
| Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis
|
| Pinheiro A, Silva MJ, Graça I, Silva J, Sá R, Sousa M, Barros A, Tavares de Almeida I, Rivera I.
|
| Gene. Sep 10;506(1):173-8. doi: 10.1016/j.gene.2012.06.068. Epub 2012 Jun 29. 2012
|
| 7 | PDHA1, PDHA2
|
| Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.
|
| Pinheiro A, Faustino I, Silva MJ, Silva J, Sá R, Sousa M, Barros A, de Almeida IT, Rivera I.
|
| Mol Genet Metab 99(4):425-30. Epub 2009 Nov 16.
2010
|
| 8 | PDHA1, PDHA1D
|
| Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
|
| Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P; PDH Working Group.
|
| Clin Genet 77(5):474-82. Epub 2009 Dec 10.PMID: 20002461 2010
|
| 9 | PDHA1, PDHA1D
|
| Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.
|
| Singer BH, Iyer RK, Kerr DS, Ahmad A.
|
| Mol Genet Metab 101(1):87-9. Epub 2010 Jun 11.PMID: 20591708 2010
|
| 10 | PDHA1
|
| Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
|
| João Silva M, Pinheiro A, Eusébio F, Gaspar A, Tavares de Almeida I, Rivera I.
|
| Eur J Pediatr 168(1):17-22. Epub 2008 Apr 9.PMID: 18398624 2009
|
| 11 | PDHA1, PDHA1D
|
| Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
|
| Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F.
|
| J Inherit Metab Dis Inherit Metab Dis. 2009 Jun 11. [Epub ahead of print]PMID: 19517265 2009
|
| 12 | PDHA1, PDHA1D
|
| A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
|
| Ridout CK, Keighley P, Krywawych S, Brown RM, Brown GK.
|
| Hum Mutat 29(3):451.PMID: 18273899 2008
|
| 13 | PDHA1, PDHA1D
|
| 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.
|
| Mol Genet Metab 87(2):162-8. Epub 2006 Jan 18. 2006
|
| 14 | PDHA1, PDHA1D
|
| Females with PDHA1 gene mutations: a diagnostic challenge.
|
| Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E.
|
| Mitochondrion 6(3):155-9. Epub 2006 May 19.PMID: 16713755 2006
|
| 15 | PDHA1, PDHA1D
|
| A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
|
| Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E.
|
| Eur J Pediatr 164(2):99-103. Epub 2004 Nov 19. 2005
|
| 16 | PDHA1, PDHA1D
|
| First characterization of a large deletion of the PDHA 1 gene.
|
| Brivet M, Moutard ML, Zater M, Venet L, Chenel C, Mine M, Legrand A.
|
| Mol Genet Metab 86(4):456-61. Epub 2005 Oct 25. 2005
|
| 17 | PDHA1, PDHA1D
|
| Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
|
| Mine M, Brivet M, Touati G, Grabowski P, Abitbol M, Marsac C.
|
| J Biol Chem 278(14):11768-72. Epub 2003 Jan 27. 2003
|
| 18 | PDHA1, PDHA1D
|
| Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
|
| Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.
|
| Hum Mutat 15(3):209-19. 2000
|
| 19 | PDHA1, PDHA1D
|
| 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.
|
| Hum Mol Genet 9(7):1041-8. 2000
|
| 20 | PDHA1, PDHA1D
|
| Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
|
| Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.
|
| Hum Mutat 15(3):209-19. Review.
2000
|
| 21 | PDHA1
|
| Cloning and characterization of a 5.9 kb promoter region of the human pyruvate dehydrogenase alpha subunit gene.
|
| Tan J, et al.
|
| Biochim Biophys Acta 1431(2):531-7. 1999
|
| 22 | PDHA1
|
| Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
|
| Tripatara A, et al.
|
| Arch Biochem Biophys 367(1):39-50 1999
|
| 23 | LGS, PDHA1, PDHA1D
|
| Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
|
| Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.
|
| Eur J Pediatr 158(10):853-7 1999
|
| 24 | LGS, PDHA1, PDHA1D
|
| Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
|
| Otero LJ, et al.
|
| Hum Mutat 12 : 114-121. 1998
|
| 25 | PDHA1
|
| Refined localization of the pyruvate dehydrogenase E1alpha gene (PDHA1) by linkage analysis.
|
| Dupont Bšrglum A, et al.
|
| Hum Genet 99 : 80-82. 1997
|
| 26 | PDHA1
|
| Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
|
| Marsac C, Benelli C, Desguerre I, Diry M, Fouque F, De Meirleir L, Ponsot G, Seneca S, Poggi F, Saudubray JM, Zabot MT, Fontan D, Lissens W.
|
| Hum Genet 99(6):785-92. 1997
|
| 27 | LGS, PDHA1, PDHA1D
|
| Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
|
| Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y.
|
| J Inherit Metab Dis 20(4):539-48. 1997
|
| 28 | PDHA1
|
| Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.
|
| Trump D, et al.
|
| Hum Genet 97 : 60-68. 1996
|
| 29 | LGS, PDHA1, PDHA1D
|
| Mutation analysis of the pyruvate dehydrogenase E1alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
|
| Lissens W, et al.
|
| Hum Mutat 7 : 46-51. 1996
|
| 30 | LGS, PDHA1, SNE1, SNELS, SURF1
|
| Leigh syndrome : clinical features and biochemical and DNA abnormalities.
|
| Rahman S, et al.
|
| Ann Neurol 39 : 343-351. 1996
|
| 31 | PDHA1
|
| Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1alpha gene.
|
| Lissens W, et al.
|
| Hum Mol Genet 4 : 307-308. 1995
|
| 32 | PDHA1
|
| Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
|
| Hemalatha SG, et al.
|
| Hum Mol Genet 4 : 315-318. 1995
|
| 33 | PDHA1
|
| An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
|
| Takakubo F, et al.
|
| Am J Hum Genet 57 : 772-780. 1995
|
| 34 | PDHA1
|
| A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.
|
| Takakubo F, Thorburn DR, Brown RM, Brown GK, Dahl HH.
|
| Hum Mutat 6(3):274-5. 1995
|
| 35 | PDHA1
|
| Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency : detection of a new mutation and differential expression of mutant gene product in cultured cells.
|
| Ito M, et al.
|
| J Inherit Metab Dis 18 : 547-557. 1995
|
| 36 | PDHA1
|
| Mutations in the X-linked E1alpha subunit of pyruvate dehydrogenase : exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
|
| Chun K, et al.
|
| Am J Hum Genet 56 : 558-569. 1995
|
| 37 | PDHA1
|
| Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1alpha subunit.
|
| Dahl HHM, et al.
|
| Hum Mutat 3 : 152-155. 1994
|
| 38 | PDHA1
|
| Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1alpha subunit.
|
| Hansen LL, et al.
|
| Hum Mol Genet 3 : 1021-1022. 1994
|
| 39 | PDHA1
|
| Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
|
| Naito E, et al.
|
| Hum Mol Genet 3 : 1193-1194. 1994
|
| 40 | PDHA1
|
| Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
|
| Matthews PM, et al.
|
| Brain 117 : 435-443. 1994
|
| 41 | PDHA1
|
| Construction of a YAC contig in the human Xp22.1 region. (abstr)
|
| Van de Vosse E, et al.
|
| Cytogenet Cell Genet 67 : 336. 1994
|
| 42 | PDHA1
|
| A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1alpha gene (PDHA1).
|
| Takakubo F, et al.
|
| Hum Mol Genet 2 : 1961-1962. 1993
|
| 43 | PDHA1
|
| A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1alpha gene (PDHA1).
|
| Takakubo F, et al.
|
| Hum Mol Genet 2 : 473-474. 1993
|
| 44 | PDHA1
|
| Mutations in the X-linked E1alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
|
| Chun K, et al.
|
| Hum Mol Genet 2 : 449-454. 1993
|
| 45 | PDHA1
|
| Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1alpha subunit.
|
| Hansen LL, et al.
|
| Hum Mol Genet 2 : 805-807. 1993
|
| 46 | PDHA1, LGS
|
| Molecular genetic characterization of an X-linked form of Leigh's syndrome.
|
| Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK.
|
| Ann Neurol 33(6):652-5. 1993
|
| 47 | PDHA1
|
| Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1alpha subunit.
|
| De Meirleir L, et al.
|
| Hum Genet 88 : 649-652. 1992
|
| 48 | PDHA1
|
| Mutation of E1 alpha gene in a female patient with pyruvate. dehydrogenase deficiency due to rapid degradation of E1 protein.
|
| Ito M, et al.
|
| J Inherit Metab Dis 15 : 848-856. 1992
|
| 49 | PDHA1
|
| X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females : variable manifestation of the same mutation.
|
| Dahl HH, et al.
|
| J Inherit Metab Dis 15 : 835-847. 1992
|
| 50 | PDHA1
|
| Polymorphisms in the human X-linked pyruvate dehydrogenase E1-alpha gene.
|
| Dahl HHM, et al.
|
| Hum Genet 87 : 49-53. 1991
|
| 51 | PDHA1
|
| Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1-alpha gene.
|
| Chun K, et al.
|
| Am J Hum Genet 49 : 414-420. 1991
|
| 52 | PDHA1
|
| Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
|
| Hansen LL, et al.
|
| J Inherit Metab Dis 14 : 140-151. 1991
|
| 53 | PDHA1
|
| The gene for the alpha polypeptide of pyruvate dehydrogenase is X-linked in humans.
|
| Szabo P, et al.
|
| Am J Hum Genet 46 : 874-878. 1990
|
| 54 | DLD, DLDD, PDHA1
|
| Isolated and combined deficiencies of the alpha-keto-acid dehydrogenase complexes.
|
| Robinson BH, Chun K, Mackay N, Otulakowski G, Petrova-Benedict R, Willard H.
|
| Ann NY Acad Sci 573 : 337-346. 1990
|
| 55 | PDHA1
|
| Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the EI-alpha gene.
|
| Dahl HHM, et al.
|
| Am J Hum Genet 47 : 286-293. 1990
|
| 56 | PDHA1
|
| The clinical and biochemical spectrum of human pyruvate dehydrogenase deficiency.
|
| Brown GK, et al.
|
| Ann NY Acad Sci 573 : 360-368. 1990
|
| 57 | PDHA1
|
| Three genes for enzymes of the pyruvate dehydrogenase complex map to human chromosomes 3,7, and X.
|
| Olson S, et al.
|
| Am J Hum Genet 46 : 340-349. 1990
|
| 58 | PDHA1
|
| Defective gene in lactic acidosis : abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frameshift.
|
| Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S.
|
| Am J Hum Genet 44 : 358-364. 1989
|
| 59 | PDHA1, PDHA2
|
| X-chromosome localization of the functional gene for the E1î subunit of the human pyruvate dehydrogenase complex.
|
| Brown RM, et al.
|
| Genomics 4 : 174-181. 1989
|
| 60 | PCDLA, PDHA1
|
| Lacticacidemia: Biochemical, clinical, and genetic considerations.
|
| Robinson BH.
|
| Adv Hum Genet 18 : 151-179. 1989
|
| 61 | PDHA1
|
| Regional localization of the X-linked human pyruvate dehydrogenase E1-alpha subunit gene.
|
| Brown RM, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 970. 1989
|
| 62 | PDHA1
|
| Pyruvate dehydrogenase complex deficiency with agenesia of corpus callosum inherited as an X-linked recessive in a Puertorrican family.
|
| Toro-Sola MA, et al.
|
| Am J Hum Genet 43 : A17. 1988
|
| 63 | LGS, PDHA1, PDHA1D, PDHB
|
| Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
|
| Kretzschmar HA, et al.
|
| Pediatrics 79 : 370-373. 1987
|
| 64 | LGS, PDHA1, PDHA1D
|
| Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.
|
| McKay N, et al.
|
| Eur J Pediatr 144 : 445-450. 1986
|
| 65 | LGS, PDHA1, PDHA1D, PDHB
|
| Biochemical studies with 28 children with lactic acidosis, in relation to Leighs' encephalomyelopathy.
|
| Miyabayashi S, et al.
|
| Eur J Pediatr 143 : 278-282. 1985
|