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Items: 1 to 20 of 111

1.

AADC deficiency: occurring in humans, modeled in rodents.

Hwu WL, Lee NC, Chien YH, Muramatsu S, Ichinose H.

Adv Pharmacol. 2013;68:273-84. doi: 10.1016/B978-0-12-411512-5.00013-0. Review.

PMID:
24054149
2.

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;52:177-90. doi: 10.1016/j.nbd.2012.12.005. Epub 2012 Dec 26.

PMID:
23275025
3.

A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.

Allen GF, Land JM, Heales SJ.

Mol Genet Metab. 2009 May;97(1):6-14. doi: 10.1016/j.ymgme.2009.01.010. Epub 2009 Jan 27. Review.

PMID:
19231266
4.

Gene therapy for aromatic L-amino acid decarboxylase deficiency.

Hwu WL, Muramatsu S, Tseng SH, Tzen KY, Lee NC, Chien YH, Snyder RO, Byrne BJ, Tai CH, Wu RM.

Sci Transl Med. 2012 May 16;4(134):134ra61. doi: 10.1126/scitranslmed.3003640.

5.

Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.

Lee NC, Chien YH, Hu MH, Liu WS, Chen PW, Wang WH, Tzen KY, Byrne BJ, Hwu WL.

Hum Gene Ther. 2014 Mar;25(3):189-98. doi: 10.1089/hum.2013.170. Epub 2014 Jan 7.

6.

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.

Lee NC, Muramatsu S, Chien YH, Liu WS, Wang WH, Cheng CH, Hu MK, Chen PW, Tzen KY, Byrne BJ, Hwu WL.

Mol Ther. 2015 Oct;23(10):1572-81. doi: 10.1038/mt.2015.122. Epub 2015 Jul 3.

7.
8.

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. doi: 10.1093/hmg/ddx326.

PMID:
28973165
9.

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 1;25(23):5142-5147. doi: 10.1093/hmg/ddw323.

PMID:
27658936
10.
11.

A dose-ranging study of AAV-hAADC therapy in Parkinsonian monkeys.

Forsayeth JR, Eberling JL, Sanftner LM, Zhen Z, Pivirotto P, Bringas J, Cunningham J, Bankiewicz KS.

Mol Ther. 2006 Oct;14(4):571-7. Epub 2006 Jun 16.

12.

Adeno-associated virus vector-mediated triple gene transfer of dopamine synthetic enzymes.

Fan D, Shen Y, Kang D, Nakano I, Ozawa K.

Chin Med J (Engl). 2001 Dec;114(12):1276-9.

PMID:
11793852
13.

Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.

Chen PW, Lee NC, Chien YH, Wu JY, Wang PC, Hwu WL.

Clin Chim Acta. 2014 Apr 20;431:19-22. doi: 10.1016/j.cca.2014.01.034. Epub 2014 Feb 7.

PMID:
24513538
14.

Cotransduction of tyrosine hydroxylase and aromatic L-amino acid decarboxylase genes into cultured striatal cells using adeno-associated virus vectors.

Fan D, Kang D, Ogawa M, Nakano I, Nagatsu T, Kurtzman GJ, Ozawa K.

Chin Med J (Engl). 1998 Dec;111(12):1111-3.

PMID:
11263376
15.

Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.

Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA.

Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9.

PMID:
16288991
16.

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N.

Neurology. 2010 Jul 6;75(1):64-71. doi: 10.1212/WNL.0b013e3181e620ae. Epub 2010 May 26. Erratum in: Neurology. 2010 Aug 10;75(6):576. Dosage error in article text.

PMID:
20505134
17.

Viral-mediated temporally controlled dopamine production in a rat model of Parkinson disease.

Li XG, Okada T, Kodera M, Nara Y, Takino N, Muramatsu C, Ikeguchi K, Urano F, Ichinose H, Metzger D, Chambon P, Nakano I, Ozawa K, Muramatsu S.

Mol Ther. 2006 Jan;13(1):160-6. Epub 2005 Sep 22.

18.

Aromatic L-amino acid decarboxylase (AADC) is crucial for brain development and motor functions.

Shih DF, Hsiao CD, Min MY, Lai WS, Yang CW, Lee WT, Lee SJ.

PLoS One. 2013 Aug 5;8(8):e71741. doi: 10.1371/journal.pone.0071741. Print 2013.

19.

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA.

Mol Genet Metab. 2007 Apr;90(4):363-9. Epub 2007 Jan 19.

PMID:
17240182
20.

Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.

Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH.

Pediatr Neurol. 2017 Oct;75:66-72. doi: 10.1016/j.pediatrneurol.2017.06.014. Epub 2017 Jun 29.

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