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    PDHX pyruvate dehydrogenase complex component X [ Homo sapiens (human) ]

    Gene ID: 8050, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Cuproptosis-related gene PDHX and heat stress-related HSPD1 as potential key drivers associated with cell stemness, aberrant metabolism and immunosuppression in esophageal carcinoma.

    Cuproptosis-related gene PDHX and heat stress-related HSPD1 as potential key drivers associated with cell stemness, aberrant metabolism and immunosuppression in esophageal carcinoma.
    Jiang R, Sun Y, Li Y, Tang X, Hui B, Ma S, Zhang J, Sun C, Tan J, Zhou B, Lei J, Jiang T.

    04/6/2023
    Identification of PDHX as a metabolic target for esophageal squamous cell carcinoma.

    Identification of PDHX as a metabolic target for esophageal squamous cell carcinoma.
    Inoue J, Kishikawa M, Tsuda H, Nakajima Y, Asakage T, Inazawa J., Free PMC Article

    07/10/2021
    PDHX is a functional target of miR-27b and that this interaction has consequential effects on cell metabolism which facilitate cell growth and progression in breast cancer.

    Suppression of PDHX by microRNA-27b deregulates cell metabolism and promotes growth in breast cancer.
    Eastlack SC, Dong S, Ivan C, Alahari SK., Free PMC Article

    08/3/2019
    We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis.

    Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
    Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L.

    06/20/2015
    MiR-26a regulates glucose metabolism of colorectal cancer cells by direct targeting PDHX.

    MicroRNA-26a regulates glucose metabolism by direct targeting PDHX in colorectal cancer cells.
    Chen B, Liu Y, Jin X, Lu W, Liu J, Xia Z, Yuan Q, Zhao X, Xu N, Liang S., Free PMC Article

    03/21/2015
    New mutation in PDHX gene found in two unrelated patients with Pyruvate dehydrogenase deficiency.

    Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
    Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M.

    06/22/2013
    genetic association with systemic lupus erythematosus to a haplotype between PDHX and CD44 was established.

    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. Alarcón-Riquelme on behalf of the BIOLUPUS and GENLES Networks, Anaya JM, Bae SC, Boackle SA, Brown EE, Chang DM, Criswell LA, Edberg JC, Freedman BI, Gregersen PK, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Martin J, Merrill JT, Niewold TB, Park SY, Petri MA, Pons-Estel BA, Ramsey-Goldman R, Reveille JD, Song YW, Stevens AM, Tsao BP, Vila LM, Vyse TJ, Yu CY, Guthridge JM, Bruner GR, Langefeld CD, Montgomery C, Harley JB, Scofield RH, Gaffney PM, Moser KL., Free PMC Article

    02/5/2011
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A.

    12/5/2010
    determination that PDH and complex III exist at a steady-state ratio of 1:100, 1:128 and 1:202 in HeLa cell extracts, fibroblast mitochondria and heart tissue mitochondria, respectively

    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.

    01/21/2010
    model of the pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and binding of the E1 and E3 components

    Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.
    Hiromasa Y, Fujisawa T, Aso Y, Roche TE.

    01/21/2010
    specificity of pairing for human E3BP with E3 from its subcomplex structure to be most likely due to conformational rigidity of the binding fragment of the E3-binding domain of E3BP and its exquisite amino acid match with the E3 target interface

    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.

    01/21/2010
    These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene.

    Leigh's disease due to a new mutation in the PDHX gene.
    Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H.

    01/21/2010
    A cluster of disease-causing E3 mutations located near the center of the E3BD/E3 interface prevents the efficient recruitment of these E3 variants by E3BP into the PDC, leading to the dysfunction of the PDC catalytic machine.

    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., Free PMC Article

    01/21/2010
    Despite the presence of antibodies reactive with PDC-E3BP in the majority of primary biliary cirrhosis (PBC) patients this self-protein is not a dominant T-cell autoantigen in PBC.

    PDC-E3BP is not a dominant T-cell autoantigen in primary biliary cirrhosis.
    McHugh A, Robe AJ, Palmer JM, Jones DE.

    01/21/2010
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