217 related articles for article (PubMed ID: 30767241)
21. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B; Gutiérrez-Solana LG; Verdú A; Merinero B; Yuste-Checa P; Ruiz-Sala P; Calvo R; Jalan A; Marín LL; Campos O; Ruiz MÁ; San Miguel M; Vázquez M; Castro M; Ferrer I; Navarrete R; Desviat LR; Lapunzina P; Ugarte M; Pérez-Cerdá C
Epilepsia; 2013 Feb; 54(2):239-48. PubMed ID: 23350806
[TBL] [Abstract][Full Text] [Related]
22. Inactivation of the lys7 gene, encoding saccharopine reductase in Penicillium chrysogenum, leads to accumulation of the secondary metabolite precursors piperideine-6-carboxylic acid and pipecolic acid from alpha-aminoadipic acid.
Naranjo L; Martín de Valmaseda E; Casqueiro J; Ullán RV; Lamas-Maceiras M; Bañuelos O; Martín JF
Appl Environ Microbiol; 2004 Feb; 70(2):1031-9. PubMed ID: 14766586
[TBL] [Abstract][Full Text] [Related]
23. Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
Mercimek-Mahmutoglu S; Cordeiro D; Cruz V; Hyland K; Struys EA; Kyriakopoulou L; Mamak E
Eur J Paediatr Neurol; 2014 Nov; 18(6):741-6. PubMed ID: 25127453
[TBL] [Abstract][Full Text] [Related]
24. Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
Kava MP; Bryant L; Rowe P; Lewis B; Greed L; Balasubramaniam S
JIMD Rep; 2020 Jul; 54(1):9-15. PubMed ID: 32685344
[TBL] [Abstract][Full Text] [Related]
25. Enzymes responsible for metabolism of Nα-benzyloxycarbonyl-L-lysine in microorganisms.
Isobe K
N Biotechnol; 2010 Dec; 27(6):751-4. PubMed ID: 20460177
[TBL] [Abstract][Full Text] [Related]
26. Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by
Mercimek-Mahmutoglu S; Corderio D; Nagy L; Mutch C; Carter M; Struys E; Kyriakopoulou L
Mol Genet Metab Rep; 2014; 1():124-128. PubMed ID: 27896080
[TBL] [Abstract][Full Text] [Related]
27. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Struys EA; Nota B; Bakkali A; Al Shahwan S; Salomons GS; Tabarki B
Pediatrics; 2012 Dec; 130(6):e1716-9. PubMed ID: 23147983
[TBL] [Abstract][Full Text] [Related]
28. The Metabolite Saccharopine Impairs Neuronal Development by Inhibiting the Neurotrophic Function of Glucose-6-Phosphate Isomerase.
Guo Y; Wu J; Wang M; Wang X; Jian Y; Yang C; Guo W
J Neurosci; 2022 Mar; 42(13):2631-2646. PubMed ID: 35135854
[TBL] [Abstract][Full Text] [Related]
29. The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies.
Leandro J; Houten SM
Mol Genet Metab; 2020; 131(1-2):14-22. PubMed ID: 32768327
[TBL] [Abstract][Full Text] [Related]
30. Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF; van Outersterp RE; Merx J; van Geenen FA; van Rooij A; Berden G; Huigen MC; Kluijtmans LA; Peters TM; Al-Shekaili HH; Leavitt BR; de Vrieze E; Broekman S; van Wijk E; Tseng LA; Kulkarni P; Rutjes FP; Mecinović J; Struys EA; Jansen LA; Gospe SM; Mercimek-Andrews S; Hyland K; Willemsen MA; Bok LA; van Karnebeek CD; Wevers RA; Boltje TJ; Oomens J; Martens J; Coene KL
J Clin Invest; 2021 Aug; 131(15):. PubMed ID: 34138754
[TBL] [Abstract][Full Text] [Related]
31. Human antiquitin: structural and functional studies.
Chan CL; Wong JW; Wong CP; Chan MK; Fong WP
Chem Biol Interact; 2011 May; 191(1-3):165-70. PubMed ID: 21185811
[TBL] [Abstract][Full Text] [Related]
32. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Plecko B; Paul K; Paschke E; Stoeckler-Ipsiroglu S; Struys E; Jakobs C; Hartmann H; Luecke T; di Capua M; Korenke C; Hikel C; Reutershahn E; Freilinger M; Baumeister F; Bosch F; Erwa W
Hum Mutat; 2007 Jan; 28(1):19-26. PubMed ID: 17068770
[TBL] [Abstract][Full Text] [Related]
33. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Mills PB; Footitt EJ; Ceyhan S; Waters PJ; Jakobs C; Clayton PT; Struys EA
J Inherit Metab Dis; 2012 Nov; 35(6):1031-6. PubMed ID: 22403017
[TBL] [Abstract][Full Text] [Related]
34. Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
Oliveira R; Pereira C; Rodrigues F; Alfaite C; Garcia P; Robalo C; Fineza I; Gonçalves O; Struys E; Salomons G; Jakobs C; Diogo L
Epileptic Disord; 2013 Dec; 15(4):400-6. PubMed ID: 24184718
[TBL] [Abstract][Full Text] [Related]
35. A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Al-Shekaili HH; Petkau TL; Pena I; Lengyell TC; Verhoeven-Duif NM; Ciapaite J; Bosma M; van Faassen M; Kema IP; Horvath G; Ross C; Simpson EM; Friedman JM; van Karnebeek C; Leavitt BR
Hum Mol Genet; 2020 Nov; 29(19):3266-3284. PubMed ID: 32969477
[TBL] [Abstract][Full Text] [Related]
36. Crystal structure of saccharopine reductase from Magnaporthe grisea, an enzyme of the alpha-aminoadipate pathway of lysine biosynthesis.
Johansson E; Steffens JJ; Lindqvist Y; Schneider G
Structure; 2000 Oct; 8(10):1037-47. PubMed ID: 11080625
[TBL] [Abstract][Full Text] [Related]
37. The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis.
Zhou J; Wang X; Wang M; Chang Y; Zhang F; Ban Z; Tang R; Gan Q; Wu S; Guo Y; Zhang Q; Wang F; Zhao L; Jing Y; Qian W; Wang G; Guo W; Yang C
J Cell Biol; 2019 Feb; 218(2):580-597. PubMed ID: 30573525
[TBL] [Abstract][Full Text] [Related]
38. A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
Mahajnah M; Corderio D; Austin V; Herd S; Mutch C; Carter M; Struys E; Mercimek-Mahmutoglu S
Pediatr Neurol; 2016 Jul; 60():60-5. PubMed ID: 27212567
[TBL] [Abstract][Full Text] [Related]
39. Efficient biosynthesis of α-aminoadipic acid via lysine catabolism in Escherichia coli.
Zhang Y; An N; Zhao Y; Li X; Shen X; Wang J; Sun X; Yuan Q
Biotechnol Bioeng; 2023 Jan; 120(1):312-317. PubMed ID: 36226358
[TBL] [Abstract][Full Text] [Related]
40. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
Sacksteder KA; Biery BJ; Morrell JC; Goodman BK; Geisbrecht BV; Cox RP; Gould SJ; Geraghty MT
Am J Hum Genet; 2000 Jun; 66(6):1736-43. PubMed ID: 10775527
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]