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]