| 1 | CD44, PDHX
|
| Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.
|
| Lessard CJ, Adrianto I, Kelly JA, Kaufman KM, Grundahl KM, Adler A, Williams AH, Gallant CJ; Marta E.
|
| Am J Hum Genet 88(1):83-91. Epub 2010 Dec 30.PMID: 21194677 2011
|
| 2 | PDHX
|
| Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
|
| Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I.
|
| Dev Med Child Neurol 52(2):e1-9. Epub 2009 Dec 1.PMID: 20002125 2010
|
| 3 | PDHX
|
| A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
|
| Miné M, Chen JM, Brivet M, Desguerre I, Marchant D, de Lonlay P, Bernard A, Férec C, Abitbol M, Ricquier D, Marsac C.
|
| Hum Mutat 28(2):137-42.PMID: 17152059 2007
|
| 4 | DBT, PDHX, DLD
|
| How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.
|
| Ciszak EM, Makal A, Hong YS, Vettaikkorumakankauv AK, Korotchkina LG, Patel MS.
|
| J Biol Chem 281(1):648-55. Epub 2005 Nov 1. 2006
|
| 5 | DBT, PDHX, DLD
|
| Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.
|
| Brautigam CA, Wynn RM, Chuang JL, Machius M, Tomchick DR, Chuang DT.
|
| Structure 14(3):611-21. Epub 2006 Jan 26. 2006
|
| 6 | PDHX
|
| A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
|
| Mine M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C.
|
| Mol Genet Metab 89(1-2):106-10. Epub 2006 Jul 13. Review. 2006
|
| 7 | PDHX
|
| Leigh's disease due to a new mutation in the PDHX gene.
|
| Schiff M, Mine M, Brivet M, Marsac C, Elmaleh-Berges M, Evrard P, Ogier de Baulny H.
|
| Ann Neurol 59(4):709-14. Erratum in: Ann Neurol. 2006 Jun;59(6):990. 2006
|
| 8 | PDHX
|
| Quantitative proteomics: the copy number of pyruvate dehydrogenase is more than 10(2)-fold lower than that of complex III in human mitochondria.
|
| Murray J, Gilkerson R, Capaldi RA.
|
| FEBS Lett 529(2-3):173-8. 2002
|
| 9 | PDHX
|
| Pyruvate dehydrogenase E3 binding protein deficiency.
|
| Brown RM, Head RA, Brown GK.
|
| Hum Genet 110(2):187-91. Epub 2002 Jan 22. 2002
|
| 10 | PDHX
|
| A pancreatic beta -cell-specific enhancer in the human PDX-1 gene is regulated by hepatocyte nuclear factor 3beta (HNF-3beta ), HNF-1alpha, and SPs transcription factors.
|
| Ben-Shushan E, Marshak S, Shoshkes M, Cerasi E, Melloul D.
|
| J Biol Chem 276(20):17533-40. 2001
|
| 11 | CD44, CSTF3, DEPDC7, EIF3M, FJX1, PDHX, RCN1
|
| A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1.
|
| Gawin B, NiederfŸhr A, Schumacher N, Hummerich H, Little PF, Gessler M.
|
| Genome Res 9(11):1074-86 1999
|
| 12 | PDHX
|
| Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
|
| Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH.
|
| Hum Mol Genet 7(3):501-5. 1998
|
| 13 | PDHX
|
| Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
|
| Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C.
|
| Am J Hum Genet 61(6):1318-26. Review. 1997
|
| 14 | PDHX
|
| Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy.
|
| Marsac C, Stansbie D, Bonne G, Cousin J, Jehenson P, Benelli C, Leroux JP, Lindsay G.
|
| J Pediatr 123(6):915-20. 1993
|
| 15 | PDHX
|
| Properties of the pyruvate dehydrogenase kinase bound to and separated from the dihydrolipoyl transacetylase-protein X subcomplex and evidence for binding of the kinase to protein X.
|
| Rahmatullah M, et al.
|
| J Biol Chem 261 : 6515-6523. 1986
|
| 16 | PDHX
|
| Component X. An immunologically distinct polypeptide associated with mammalian pyruvate dehydrogenase multi-enzyme complex.
|
| De Marcucci O, et al.
|
| Eur J Biochem 149 : 641-648. 1985
|