215 related articles for article (PubMed ID: 33092611)
1. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H; Silva MJ; Florindo C; Sequeira S; Ferreira AC; Duarte S; Rodrigues AL; Janeiro P; Oliveira A; Gomes D; Bandeira A; Martins E; Gomes R; Soares S; Tavares de Almeida I; Vicente JB; Rivera I
Orphanet J Rare Dis; 2020 Oct; 15(1):298. PubMed ID: 33092611
[TBL] [Abstract][Full Text] [Related]
2. Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
Pavlu-Pereira H; Lousa D; Tomé CS; Florindo C; Silva MJ; de Almeida IT; Leandro P; Rivera I; Vicente JB
Biochimie; 2021 Apr; 183():78-88. PubMed ID: 33588022
[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. 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]
5. 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]
6. 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]
7. 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]
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. 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]
10. Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.
Gokcan H; Bedoyan JK; Isayev O
J Chem Inf Model; 2022 Jul; 62(14):3463-3475. PubMed ID: 35797142
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
João Silva M; Pinheiro A; Eusébio F; Gaspar A; Tavares de Almeida I; Rivera I
Eur J Pediatr; 2009 Jan; 168(1):17-22. PubMed ID: 18398624
[TBL] [Abstract][Full Text] [Related]
15. A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
Bachmann-Gagescu R; Merritt JL; Hahn SH
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():. PubMed ID: 19639391
[TBL] [Abstract][Full Text] [Related]
16. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Coughlin CR; Krantz ID; Schmitt ES; Zhang S; Wong LJ; Kerr DS; Ganesh J
Mol Genet Metab; 2010 Jul; 100(3):296-9. PubMed ID: 20462777
[TBL] [Abstract][Full Text] [Related]
17. Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E; Moller LB; Kalkanoglu-Sivri HS; Dursun A; Kibaek M; Thelle T; Christensen E; Duno M; Wibrand F
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S235-9. PubMed ID: 19517265
[TBL] [Abstract][Full Text] [Related]
18. Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Bhandary S; Aguan K
Epilepsy Res; 2015 Oct; 116():40-52. PubMed ID: 26354166
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
