156 related articles for article (PubMed ID: 15569252)
1. Biochemical and structural brain alterations in female mice with cerebral pyruvate dehydrogenase deficiency.
Pliss L; Pentney RJ; Johnson MT; Patel MS
J Neurochem; 2004 Dec; 91(5):1082-91. PubMed ID: 15569252
[TBL] [Abstract][Full Text] [Related]
2. Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate.
Simpson NE; Han Z; Berendzen KM; Sweeney CA; Oca-Cossio JA; Constantinidis I; Stacpoole PW
Mol Genet Metab; 2006; 89(1-2):97-105. PubMed ID: 16765624
[TBL] [Abstract][Full Text] [Related]
3. Brain MR imaging and proton MR spectroscopy in female mice with pyruvate dehydrogenase complex deficiency.
Pliss L; Mazurchuk R; Spernyak JA; Patel MS
Neurochem Res; 2007; 32(4-5):645-54. PubMed ID: 17342409
[TBL] [Abstract][Full Text] [Related]
4. Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.
Johnson MT; Mahmood S; Hyatt SL; Yang HS; Soloway PD; Hanson RW; Patel MS
Mol Genet Metab; 2001 Nov; 74(3):293-302. PubMed ID: 11708858
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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; 2010 Feb; 52(2):e1-9. PubMed ID: 20002125
[TBL] [Abstract][Full Text] [Related]
7. Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.
Pliss L; Hausknecht KA; Stachowiak MK; Dlugos CA; Richards JB; Patel MS
PLoS One; 2013; 8(6):e67473. PubMed ID: 23840713
[TBL] [Abstract][Full Text] [Related]
8. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD; Okajima K; Zhang S; Nakouzi G; Schmotzer CL; Lusk-Kopp M; Frohnapfel MB; Grahame G; Kerr DS
Mol Genet Metab; 2012 Nov; 107(3):394-402. PubMed ID: 23021068
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Head RA; Brown RM; Zolkipli Z; Shahdadpuri R; King MD; Clayton PT; Brown GK
Ann Neurol; 2005 Aug; 58(2):234-41. PubMed ID: 16049940
[TBL] [Abstract][Full Text] [Related]
10. Animal model of autism using GSTM1 knockout mice and early post-natal sodium valproate treatment.
Yochum CL; Bhattacharya P; Patti L; Mirochnitchenko O; Wagner GC
Behav Brain Res; 2010 Jul; 210(2):202-10. PubMed ID: 20178820
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity.
Choi CS; Ghoshal P; Srinivasan M; Kim S; Cline G; Patel MS
Lipids; 2010 Nov; 45(11):987-95. PubMed ID: 20835892
[TBL] [Abstract][Full Text] [Related]
13. Acetyl-CoA production from pyruvate is not necessary for preservation of myelin.
Della-Flora Nunes G; Mueller L; Silvestri N; Patel MS; Wrabetz L; Feltri ML; Poitelon Y
Glia; 2017 Oct; 65(10):1626-1639. PubMed ID: 28657129
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Odièvre MH; Chretien D; Munnich A; Robinson BH; Dumoulin R; Masmoudi S; Kadhom N; Rötig A; Rustin P; Bonnefont JP
Hum Mutat; 2005 Mar; 25(3):323-4. PubMed ID: 15712224
[TBL] [Abstract][Full Text] [Related]
15. Area-specific effects of brain-derived neurotrophic factor (BDNF) genetic ablation on various neuronal subtypes of the mouse brain.
Grosse G; Djalali S; Deng DR; Höltje M; Hinz B; Schwartzkopff K; Cygon M; Rothe T; Stroh T; Hellweg R; Ahnert-Hilger G; Hörtnag H
Brain Res Dev Brain Res; 2005 May; 156(2):111-26. PubMed ID: 16099299
[TBL] [Abstract][Full Text] [Related]
16. Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment.
Ebertowska A; Ludkiewicz B; Klejbor I; Melka N; Moryś J
Folia Morphol (Warsz); 2020; 79(2):191-197. PubMed ID: 32073132
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex.
Drakulic S; Rai J; Petersen SV; Golas MM; Sander B
Cell Mol Life Sci; 2018 Aug; 75(16):3009-3026. PubMed ID: 29445841
[TBL] [Abstract][Full Text] [Related]
19. Gene regulation and genetic defects in the pyruvate dehydrogenase complex.
Patel MS; Naik S; Wexler ID; Kerr DS
J Nutr; 1995 Jun; 125(6 Suppl):1753S-1757S. PubMed ID: 7782940
[TBL] [Abstract][Full Text] [Related]
20. [Genetic defect of pyruvate dehydrogenase].
Koike K; Urata Y
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):663-5. PubMed ID: 3270880
[No Abstract] [Full Text] [Related]
[Next] [New Search]
