305 related articles for article (PubMed ID: 15798212)
21. 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]
22. Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.
Dey R; Aral B; Abitbol M; Marsac C
Mol Genet Metab; 2002 Aug; 76(4):344-7. PubMed ID: 12208141
[TBL] [Abstract][Full Text] [Related]
23. Overexpression of the SR proteins ASF/SF2 and SC35 influences alternative splicing in vivo in diverse ways.
Wang J; Manley JL
RNA; 1995 May; 1(3):335-46. PubMed ID: 7489505
[TBL] [Abstract][Full Text] [Related]
24. Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Sharma R; Sharrard MJ; Connolly DJ; Mordekar SR
Dev Med Child Neurol; 2012 May; 54(5):469-71. PubMed ID: 21895644
[TBL] [Abstract][Full Text] [Related]
25. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
Shin HK; Grahame G; McCandless SE; Kerr DS; Bedoyan JK
Mol Genet Metab; 2017 Nov; 122(3):61-66. PubMed ID: 28918066
[TBL] [Abstract][Full Text] [Related]
26. A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Dey R; Mine M; Desguerre I; Slama A; Van Den Berghe L; Brivet M; Aral B; Marsac C
Ann Neurol; 2003 Feb; 53(2):273-7. PubMed ID: 12557299
[TBL] [Abstract][Full Text] [Related]
27. Antagonistic factors control the unproductive splicing of SC35 terminal intron.
Dreumont N; Hardy S; Behm-Ansmant I; Kister L; Branlant C; Stévenin J; Bourgeois CF
Nucleic Acids Res; 2010 Mar; 38(4):1353-66. PubMed ID: 19965769
[TBL] [Abstract][Full Text] [Related]
28. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Naito E; Ito M; Yokota I; Saijo T; Ogawa Y; Kuroda Y
J Neurol Sci; 2002 Sep; 201(1-2):33-7. PubMed ID: 12163191
[TBL] [Abstract][Full Text] [Related]
29. Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
Soares-Fernandes JP; Teixeira-Gomes R; Cruz R; Ribeiro M; Magalhães Z; Rocha JF; Leijser LM
Pediatr Radiol; 2008 May; 38(5):559-62. PubMed ID: 18197404
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs.
Sureau A; Gattoni R; Dooghe Y; Stévenin J; Soret J
EMBO J; 2001 Apr; 20(7):1785-96. PubMed ID: 11285241
[TBL] [Abstract][Full Text] [Related]
32. Caffeine regulates alternative splicing in a subset of cancer-associated genes: a role for SC35.
Shi J; Hu Z; Pabon K; Scotto KW
Mol Cell Biol; 2008 Jan; 28(2):883-95. PubMed ID: 18025108
[TBL] [Abstract][Full Text] [Related]
33. Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.
Seyda A; McEachern G; Haas R; Robinson BH
Hum Mol Genet; 2000 Apr; 9(7):1041-8. PubMed ID: 10767328
[TBL] [Abstract][Full Text] [Related]
34. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
Ridout CK; Keighley P; Krywawych S; Brown RM; Brown GK
Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273899
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery.
Han Z; Gorbatyuk M; Thomas J; Lewin AS; Srivastava A; Stacpoole PW
Mitochondrion; 2007 Jul; 7(4):253-9. PubMed ID: 17392036
[TBL] [Abstract][Full Text] [Related]
38. Pyruvate dehydrogenase E3 binding protein deficiency.
Brown RM; Head RA; Brown GK
Hum Genet; 2002 Feb; 110(2):187-91. PubMed ID: 11935326
[TBL] [Abstract][Full Text] [Related]
39. Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Cameron JM; Levandovskiy V; Mackay N; Tein I; Robinson BH
Am J Med Genet A; 2004 Nov; 131(1):59-66. PubMed ID: 15384102
[TBL] [Abstract][Full Text] [Related]
40. A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.
Seyda A; Chun K; Packman S; Robinson BH
J Inherit Metab Dis; 2001 Oct; 24(5):551-9. PubMed ID: 11757583
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
