Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9340-6
Reference30 articles.
1. Allen GF, Land JM, Heales SJ (2009) A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency. Mol Genet Metab 97:6–14
2. Bertoldi M, Dominici P, Moore PS, Maras B, Voltattorni BC (1998) Reaction of dopa decarboxylase with alpha-methyldopa leads to an oxidative deamination producing 3,4-dihydroxyphenylacetone, an active site directed affinity label. Biochemistry 37:6552–6561
3. Bertoldi M, Frigeri P, Paci M, Voltattorni Borri C (1999) Reaction specificity of native and nicked 3,4-dihydroxyphenylalanine decarboxylase. J Biol Chem 274:5514–5521
4. Bertoldi M, Gonsalvi M, Contestabile R, Voltattorni Borri C (2002) Mutation of tyrosine 332 to phenylalanine converts dopa decarboxylase into a decarboxylation-dependent oxidative deaminase. J Biol Chem 277:36357–36362
5. Bertoldi M, Moore PS, Maras B, Dominici P, Voltattorni Borri C (1996) Mechanism-based inactivation of dopa decarboxylase by serotonin. J Biol Chem 271:23954–23959
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