These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 15138885)

  • 1. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
    Brown RM; Head RA; Boubriak II; Leonard JV; Thomas NH; Brown GK
    Hum Genet; 2004 Jul; 115(2):123-7. PubMed ID: 15138885
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
    Otero LJ; Brown RM; Brown GK
    Hum Mutat; 1998; 12(2):114-21. PubMed ID: 9671272
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A; Boutron A; Vequaud C; Zater M; de Lonlay P; de Baulny HO; Barnerias C; Miné M; Marsac C; Saudubray JM; Brivet M
    Mol Genet Metab; 2011 Dec; 104(4):507-16. PubMed ID: 21914562
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 2000; 15(3):209-19. PubMed ID: 10679936
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
    Morten KJ; Caky M; Matthews PM
    Neurology; 1998 Nov; 51(5):1324-30. PubMed ID: 9818854
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 1999 Oct; 158(10):853-7. PubMed ID: 10486093
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
    Ducich NH; Mears JA; Bedoyan JK
    J Inherit Metab Dis; 2022 May; 45(3):557-570. PubMed ID: 35038180
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
    Okajima K; Korotchkina LG; Prasad C; Rupar T; Phillips JA; Ficicioglu C; Hertecant J; Patel MS; Kerr DS
    Mol Genet Metab; 2008 Apr; 93(4):371-80. PubMed ID: 18164639
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W; De Meirleir L; Seneca S; Benelli C; Marsac C; Poll-The BT; Briones P; Ruitenbeek W; van Diggelen O; Chaigne D; Ramaekers V; Liebaers I
    Hum Mutat; 1996; 7(1):46-51. PubMed ID: 8664900
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
    Cardozo AK; De Meirleir L; Liebaers I; Lissens W
    Pediatr Res; 2000 Dec; 48(6):748-53. PubMed ID: 11102541
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    Eur J Med Genet; 2012 Oct; 55(10):535-40. PubMed ID: 22766002
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
    Han Z; Zhong L; Srivastava A; Stacpoole PW
    J Biol Chem; 2008 Jan; 283(1):237-243. PubMed ID: 17923481
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
    Brown RM; Head RA; Morris AA; Raiman JA; Walter JH; Whitehouse WP; Brown GK
    Dev Med Child Neurol; 2006 Sep; 48(9):756-60. PubMed ID: 16904023
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
    Chun K; MacKay N; Petrova-Benedict R; Robinson BH
    Hum Mol Genet; 1993 Apr; 2(4):449-54. PubMed ID: 8504306
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.
    Dahl HH; Hansen LL; Brown RM; Danks DM; Rogers JG; Brown GK
    J Inherit Metab Dis; 1992; 15(6):835-47. PubMed ID: 1293379
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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; 1998 Mar; 7(3):501-5. PubMed ID: 9467010
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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.
    Pinheiro A; Silva MJ; Pavlu-Pereira H; Florindo C; Barroso M; Marques B; Correia H; Oliveira A; Gaspar A; Tavares de Almeida I; Rivera I
    Gene; 2016 Oct; 591(2):417-24. PubMed ID: 27343776
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency.
    Sato S; Ioi H; Kashiwagi Y; Kawashima H; Miyajima T; Naito E; Hoshika A
    Pediatr Int; 2010 Aug; 52(4):e181-3. PubMed ID: 20958858
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.