30 results on '"Bertoldi, Mariarita"'
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2. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
3. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
4. Active site serine-193 modulates activity of human aromatic amino acid decarboxylase
5. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
6. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
7. PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
8. Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
9. Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]
10. New variants of AADC deficiency expand the knowledge of enzymatic phenotypes
11. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
12. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
13. The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency
14. The novel role of peroxiredoxin-2 in red cell membrane protein homeostasis and senescence
15. Mammalian dopa decarboxylase: Structure, catalytic activity and inhibition
16. Membrane association of peroxiredoxin-2 in red cells is mediated by the N-terminal cytoplasmic domain of band 3
17. Does the aromatic l-amino acid decarboxylase contribute to thyronamine biosynthesis?
18. Peroxiredoxin-2 expression is increased in β-thalassemic mouse red cells but is displaced from the membrane as a marker of oxidative stress
19. Deoxygenation affects tyrosine phosphoproteome of red cell membrane from patients with sickle cell disease
20. Multiple roles of the active site lysine of Dopa decarboxylase
21. Reactions of human liver peroxisomal alanine:glyoxylate aminotransferase with β-chloro-L-alanine and L-cysteine: Spectroscopic and kinetic analysis
22. Holo- and apo-cystalysin from Treponema denticola: Two different conformations
23. Site-directed Mutagenesis Provides Insight into Racemization and Transamination of Alanine Catalyzed by Treponema denticola Cystalysin
24. Lysine 238 Is an Essential Residue for α,β-Elimination Catalyzed by Treponema denticola Cystalysin
25. Reaction and substrate specificity of recombinant pig kidney Dopa decarboxylase under aerobic and anaerobic conditions
26. Mutation of Tyrosine 332 to Phenylalanine Converts Dopa Decarboxylase into a Decarboxylation-dependent Oxidative Deaminase
27. Behavior of fluorinated analogs of l-(3,4-dihydroxyphenyl)alanine and l-threo-(3,4-dihydroxyphenyl)serine as substrates for Dopa decarboxylase
28. Green Tea Polyphenols: Novel Irreversible Inhibitors of Dopa Decarboxylase
29. Reaction Specificity of Native and Nicked 3,4-Dihydroxyphenylalanine Decarboxylase
30. Mechanism-based Inactivation of Dopa Decarboxylase by Serotonin
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