BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 36225138)

  • 1. Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
    Crowther LM; Poms M; Zandl-Lang M; Abela L; Hartmann H; Seiler M; Mathis D; Plecko B
    J Inherit Metab Dis; 2023 Jan; 46(1):129-142. PubMed ID: 36225138
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
    Pena IA; Roussel Y; Daniel K; Mongeon K; Johnstone D; Weinschutz Mendes H; Bosma M; Saxena V; Lepage N; Chakraborty P; Dyment DA; van Karnebeek CDM; Verhoeven-Duif N; Bui TV; Boycott KM; Ekker M; MacKenzie A
    Genetics; 2017 Dec; 207(4):1501-1518. PubMed ID: 29061647
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
    Coughlin CR; Tseng LA; Abdenur JE; Ashmore C; Boemer F; Bok LA; Boyer M; Buhas D; Clayton PT; Das A; Dekker H; Evangeliou A; Feillet F; Footitt EJ; Gospe SM; Hartmann H; Kara M; Kristensen E; Lee J; Lilje R; Longo N; Lunsing RJ; Mills P; Papadopoulou MT; Pearl PL; Piazzon F; Plecko B; Saini AG; Santra S; Sjarif DR; Stockler-Ipsiroglu S; Striano P; Van Hove JLK; Verhoeven-Duif NM; Wijburg FA; Zuberi SM; van Karnebeek CDM
    J Inherit Metab Dis; 2021 Jan; 44(1):178-192. PubMed ID: 33200442
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
    Crowther LM; Mathis D; Poms M; Plecko B
    J Inherit Metab Dis; 2019 Jul; 42(4):620-628. PubMed ID: 30767241
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
    Mills PB; Footitt EJ; Mills KA; Tuschl K; Aylett S; Varadkar S; Hemingway C; Marlow N; Rennie J; Baxter P; Dulac O; Nabbout R; Craigen WJ; Schmitt B; Feillet F; Christensen E; De Lonlay P; Pike MG; Hughes MI; Struys EA; Jakobs C; Zuberi SM; Clayton PT
    Brain; 2010 Jul; 133(Pt 7):2148-59. PubMed ID: 20554659
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.
    Kaminiów K; Pająk M; Pająk R; Paprocka J
    Brain Sci; 2021 Dec; 12(1):. PubMed ID: 35053812
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Inherited Disorders of Lysine Metabolism: A Review.
    Bouchereau J; Schiff M
    J Nutr; 2020 Oct; 150(Suppl 1):2556S-2560S. PubMed ID: 33000154
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
    Stockler S; Plecko B; Gospe SM; Coulter-Mackie M; Connolly M; van Karnebeek C; Mercimek-Mahmutoglu S; Hartmann H; Scharer G; Struijs E; Tein I; Jakobs C; Clayton P; Van Hove JL
    Mol Genet Metab; 2011; 104(1-2):48-60. PubMed ID: 21704546
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
    Jansen LA; Hevner RF; Roden WH; Hahn SH; Jung S; Gospe SM
    Ann Neurol; 2014 Jan; 75(1):22-32. PubMed ID: 24122892
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review.
    Yazdani M; Elgstøen KBP
    Seizure; 2021 Oct; 91():369-373. PubMed ID: 34298455
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
    Coughlin CR; van Karnebeek CD; Al-Hertani W; Shuen AY; Jaggumantri S; Jack RM; Gaughan S; Burns C; Mirsky DM; Gallagher RC; Van Hove JL
    Mol Genet Metab; 2015; 116(1-2):35-43. PubMed ID: 26026794
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.
    Pena IA; MacKenzie A; Van Karnebeek CDM
    Expert Rev Endocrinol Metab; 2017 Jan; 12(1):5-20. PubMed ID: 30058881
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy.
    Yan J; Wu J; Xu M; Wang M; Guo W
    Sci Adv; 2024 Apr; 10(14):eadl2764. PubMed ID: 38579001
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
    Pena IA; Marques LA; Laranjeira ÂB; Yunes JA; Eberlin MN; MacKenzie A; Arruda P
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):121-128. PubMed ID: 27615426
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.