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Items: 1 to 20 of 89

1.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
2.

Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations.

Tremiño L, Forcada-Nadal A, Rubio V.

Hum Mutat. 2018 Jul;39(7):1002-1013. doi: 10.1002/humu.23540. Epub 2018 May 16.

PMID:
29689137
3.

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M.

Epilepsia Open. 2018 Nov 1;3(4):495-502. doi: 10.1002/epi4.12272. eCollection 2018 Dec.

4.

Disorders affecting vitamin B6 metabolism.

Wilson MP, Plecko B, Mills PB, Clayton PT.

J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. Review.

PMID:
30671974
5.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT.

Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.

6.

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.

Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari MS, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A.

J Med Genet. 2017 Dec;54(12):809-814. doi: 10.1136/jmedgenet-2017-104521. Epub 2017 Apr 8.

PMID:
28391250
7.

Conserved Pyridoxal 5'-Phosphate-Binding Protein YggS Impacts Amino Acid Metabolism through Pyridoxine 5'-Phosphate in Escherichia coli.

Ito T, Yamamoto K, Hori R, Yamauchi A, Downs DM, Hemmi H, Yoshimura T.

Appl Environ Microbiol. 2019 May 16;85(11). pii: e00430-19. doi: 10.1128/AEM.00430-19. Print 2019 Jun 1.

PMID:
30902856
8.

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. doi: 10.1534/genetics.117.300137. Epub 2017 Oct 23.

9.

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Stockler S, Plecko B, Gospe SM Jr, 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 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Review.

PMID:
21704546
10.

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S.

PLoS One. 2017 Oct 20;12(10):e0186645. doi: 10.1371/journal.pone.0186645. eCollection 2017.

11.

Vitamin B6 related epilepsy during childhood.

Wang HS, Kuo MF.

Chang Gung Med J. 2007 Sep-Oct;30(5):396-401. Review.

12.

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Mol Genet Metab. 2017 Sep;122(1-2):135-142. doi: 10.1016/j.ymgme.2017.08.003. Epub 2017 Aug 12. Erratum in: Mol Genet Metab. 2018 Mar 14;:.

PMID:
28818555
13.

Zebrafish larvae exposed to ginkgotoxin exhibit seizure-like behavior that is relieved by pyridoxal-5'-phosphate, GABA and anti-epileptic drugs.

Lee GH, Sung SY, Chang WN, Kao TT, Du HC, Hsiao TH, Safo MK, Fu TF.

Dis Model Mech. 2012 Nov;5(6):785-95. doi: 10.1242/dmm.009449. Epub 2012 Jun 26.

14.

Vitamin B6 is essential for serine de novo biosynthesis.

Ramos RJ, Pras-Raves ML, Gerrits J, van der Ham M, Willemsen M, Prinsen H, Burgering B, Jans JJ, Verhoeven-Duif NM.

J Inherit Metab Dis. 2017 Nov;40(6):883-891. doi: 10.1007/s10545-017-0061-3. Epub 2017 Aug 11.

PMID:
28801717
15.

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C.

Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568.

PMID:
19142996
16.

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.

Footitt EJ, Clayton PT, Mills K, Heales SJ, Neergheen V, Oppenheim M, Mills PB.

J Inherit Metab Dis. 2013 Jan;36(1):139-45. doi: 10.1007/s10545-012-9493-y. Epub 2012 May 11.

PMID:
22576361
17.

Impairments in pyridoxine-dependent sulphur amino acid metabolism are highly sensitive to the degree of vitamin B6 deficiency and repletion in the pig.

Zhang Z, Kebreab E, Jing M, Rodriguez-Lecompte JC, Kuehn R, Flintoft M, House JD.

Animal. 2009 Jun;3(6):826-37. doi: 10.1017/S1751731109004078.

PMID:
22444769
18.

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S.

Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11. Review.

PMID:
26995068
19.

The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.

Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB.

Clin Biochem. 2014 Feb;47(3):158-65. doi: 10.1016/j.clinbiochem.2013.11.021. Epub 2013 Dec 16. Review.

PMID:
24355692
20.

Pyridoxine and pyridoxalphosphate-dependent epilepsies.

Plecko B.

Handb Clin Neurol. 2013;113:1811-7. doi: 10.1016/B978-0-444-59565-2.00050-2. Review.

PMID:
23622403

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