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238 related items for PubMed ID: 23321058

  • 1. S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
    Montioli R, Oppici E, Cellini B, Roncador A, Dindo M, Voltattorni CB.
    Hum Mol Genet; 2013 Apr 15; 22(8):1615-24. PubMed ID: 23321058
    [Abstract] [Full Text] [Related]

  • 2. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
    Montioli R, Dindo M, Giorgetti A, Piccoli S, Cellini B, Voltattorni CB.
    Hum Mol Genet; 2014 Oct 15; 23(20):5429-40. PubMed ID: 24865461
    [Abstract] [Full Text] [Related]

  • 3. A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
    Caine C, Shohat M, Kim JK, Nakanishi K, Homma S, Mosharov EV, Monani UR.
    Hum Mol Genet; 2017 Nov 15; 26(22):4406-4415. PubMed ID: 28973165
    [Abstract] [Full Text] [Related]

  • 4. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
    Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.
    Mol Genet Metab; 2019 May 15; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 5. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
    Montioli R, Janson G, Paiardini A, Bertoldi M, Borri Voltattorni C.
    IUBMB Life; 2018 Mar 15; 70(3):215-223. PubMed ID: 29356298
    [Abstract] [Full Text] [Related]

  • 6. Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
    Montioli R, Cellini B, Borri Voltattorni C.
    J Inherit Metab Dis; 2011 Dec 15; 34(6):1213-24. PubMed ID: 21541720
    [Abstract] [Full Text] [Related]

  • 7. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 15; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 8. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
    Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C.
    Mol Genet Metab; 2019 Jun 15; 127(2):132-137. PubMed ID: 31104889
    [Abstract] [Full Text] [Related]

  • 9. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
    Montioli R, Borri Voltattorni C.
    Int J Mol Sci; 2021 Mar 19; 22(6):. PubMed ID: 33808712
    [Abstract] [Full Text] [Related]

  • 10. Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states.
    Allen GF, Neergheen V, Oppenheim M, Fitzgerald JC, Footitt E, Hyland K, Clayton PT, Land JM, Heales SJ.
    J Neurochem; 2010 Jul 19; 114(1):87-96. PubMed ID: 20403077
    [Abstract] [Full Text] [Related]

  • 11. Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
    Lee NC, Shieh YD, Chien YH, Tzen KY, Yu IS, Chen PW, Hu MH, Hu MK, Muramatsu S, Ichinose H, Hwu WL.
    Neurobiol Dis; 2013 Apr 19; 52():177-90. PubMed ID: 23275025
    [Abstract] [Full Text] [Related]

  • 12. Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
    Lee NC, Lee YM, Chen PW, Byrne BJ, Hwu WL.
    Hum Mol Genet; 2016 Dec 01; 25(23):5142-5147. PubMed ID: 27658936
    [Abstract] [Full Text] [Related]

  • 13. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
    Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.
    Neuropediatrics; 2002 Aug 01; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 14. Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
    Tsai CR, Lee HF, Chi CS, Yang MT, Hsu CC.
    Hum Mutat; 2018 Dec 01; 39(12):2072-2082. PubMed ID: 30260058
    [Abstract] [Full Text] [Related]

  • 15. The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
    Bisello G, Kusmierska K, Verbeek MM, Sykut-Cegielska J, Willemsen MAAP, Wevers RA, Szymańska K, Poznanski J, Drozak J, Wertheim-Tysarowska K, Rygiel AM, Bertoldi M.
    Cell Mol Life Sci; 2022 May 20; 79(6):305. PubMed ID: 35593933
    [Abstract] [Full Text] [Related]

  • 16. Molecular genetics of dopa decarboxylase and biogenic amines in Drosophila.
    Hirsh J.
    Dev Genet; 1989 May 20; 10(3):232-8. PubMed ID: 2500287
    [Abstract] [Full Text] [Related]

  • 17. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
    Bisello G, Ribeiro RP, Perduca M, Belviso BD, Polverino De' Laureto P, Giorgetti A, Caliandro R, Bertoldi M.
    Protein Sci; 2023 Aug 20; 32(8):e4732. PubMed ID: 37466248
    [Abstract] [Full Text] [Related]

  • 18. Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.
    Kuo SJ, Ma GC, Chang SP, Wu HH, Chen CP, Chang TM, Lin WH, Wu SH, Lee MH, Hwu WL, Chen M.
    Taiwan J Obstet Gynecol; 2011 Dec 20; 50(4):468-73. PubMed ID: 22212319
    [Abstract] [Full Text] [Related]

  • 19. A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
    Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T.
    Brain Dev; 2016 Nov 20; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 20. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 20; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

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