BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 2537010)

  • 1. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.
    Endo H; Hasegawa K; Narisawa K; Tada K; Kagawa Y; Ohta S
    Am J Hum Genet; 1989 Mar; 44(3):358-64. PubMed ID: 2537010
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
    De Meirleir L; Lissens W; Vamos E; Liebaers I
    Hum Genet; 1992 Mar; 88(6):649-52. PubMed ID: 1551669
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia.
    Awata H; Endo F; Tanoue A; Kitano A; Matsuda I
    J Inherit Metab Dis; 1994; 17(2):189-95. PubMed ID: 7967473
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.
    Matthews PM; Brown RM; Otero L; Marchington D; Leonard JV; Brown GK
    Neurology; 1993 Oct; 43(10):2025-30. PubMed ID: 7692352
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
    Chun K; MacKay N; Petrova-Benedict R; Robinson BH
    Am J Hum Genet; 1991 Aug; 49(2):414-20. PubMed ID: 1907799
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast.
    Huh TL; Casazza JP; Huh JW; Chi YT; Song BJ
    J Biol Chem; 1990 Aug; 265(22):13320-6. PubMed ID: 2376596
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
    Hansen LL; Brown GK; Kirby DM; Dahl HH
    J Inherit Metab Dis; 1991; 14(2):140-51. PubMed ID: 1909401
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cloning and sequence analysis of the genes encoding the alpha and beta subunits of the E1 component of the pyruvate dehydrogenase multienzyme complex of Bacillus stearothermophilus.
    Hawkins CF; Borges A; Perham RN
    Eur J Biochem; 1990 Jul; 191(2):337-46. PubMed ID: 2200674
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; Créau N; Kamoun P; Marsac C
    Am J Hum Genet; 1997 Dec; 61(6):1318-26. PubMed ID: 9399911
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.
    de Meirleir LJ; Lissens W; Vamos E; Liebaers I
    J Inherit Metab Dis; 1991; 14(3):301-4. PubMed ID: 1770778
    [No Abstract]   [Full Text] [Related]  

  • 11. Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.
    Endo H; Miyabayashi S; Hasegawa K; Narisawa K; Tada K; Kagawa Y; Ohta S
    J Inherit Metab Dis; 1989; 12(3):363-7. PubMed ID: 2515391
    [No Abstract]   [Full Text] [Related]  

  • 12. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
    Naito E; Ito M; Takeda E; Yokota I; Yoshijima S; Kuroda Y
    Pediatr Res; 1994 Sep; 36(3):340-6. PubMed ID: 7808831
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
    Ito M; Huq AH; Naito E; Saijo T; Takeda E; Kuroda Y
    J Inherit Metab Dis; 1992; 15(6):848-56. PubMed ID: 1338114
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.
    Dahl HH; Hunt SM; Hutchison WM; Brown GK
    J Biol Chem; 1987 May; 262(15):7398-403. PubMed ID: 3034892
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit.
    Ho L; Wexler ID; Liu TC; Thekkumkara TJ; Patel MS
    Proc Natl Acad Sci U S A; 1989 Jul; 86(14):5330-4. PubMed ID: 2748588
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
    Chun K; MacKay N; Petrova-Benedict R; Federico A; Fois A; Cole DE; Robertson E; Robinson BH
    Am J Hum Genet; 1995 Mar; 56(3):558-69. PubMed ID: 7887409
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.
    Wexler ID; Kerr DS; Ho L; Lusk MM; Pepin RA; Javed AA; Mole JE; Jesse BW; Thekkumkara TJ; Pons G
    Proc Natl Acad Sci U S A; 1988 Oct; 85(19):7336-40. PubMed ID: 3140238
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
    Wexler ID; Hemalatha SG; Liu TC; Berry SA; Kerr DS; Patel MS
    Pediatr Res; 1992 Aug; 32(2):169-74. PubMed ID: 1508605
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females.
    Otero LJ; Brown GK; Silver K; Arnold DL; Matthews PM
    Pediatr Neurol; 1995 Nov; 13(4):327-32. PubMed ID: 8771169
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
    Miné M; Brivet M; Touati G; Grabowski P; Abitbol M; Marsac C
    J Biol Chem; 2003 Apr; 278(14):11768-72. PubMed ID: 12551913
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.