358 results on '"Bertoldi, Mariarita"'
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2. Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
3. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
4. Active site serine-193 modulates activity of human aromatic amino acid decarboxylase
5. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
6. A crucial active site network of titratable residues guides catalysis and NAD+ binding in human succinic semialdehyde dehydrogenase.
7. An attenuated, adult case of AADC deficiency demonstrated by protein characterization
8. Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency
9. Neurotransmitters … it is all about communication!
10. Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
11. The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
12. New variants of AADC deficiency expand the knowledge of enzymatic phenotypes
13. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
14. Oxygen reactivity with pyridoxal 5′-phosphate enzymes: biochemical implications and functional relevance
15. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
16. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
17. Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals.
18. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.
19. Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants
20. Human DOPA Decarboxylase: Catalysis and Involvement in Pharmacological Treatments for Parkinson’s Disease and Aromatic Amino Acid Decarboxylase Deficiency
21. Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals
22. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
23. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
24. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: implication in AADC deficiency
25. A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis
26. The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency
27. Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
28. The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
29. PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
30. Phosphorylation of pyridoxal 5′-phosphate enzymes: an intriguing and neglected topic
31. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
32. Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency
33. The presence and severity of epilepsy coincide with reduced GABA and cortical excitatory markers in SSADH deficiency
34. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: implication in AADC deficiency
35. The Integrated Approach to Inherited Disorders in Neurotransmitters from Molecules to Systems
36. The novel role of peroxiredoxin-2 in red cell membrane protein homeostasis and senescence
37. PREVALENCE OF DDC VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
38. Mammalian dopa decarboxylase: Structure, catalytic activity and inhibition
39. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
40. Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population
41. Membrane association of peroxiredoxin-2 in red cells is mediated by the N-terminal cytoplasmic domain of band 3
42. Does the aromatic l-amino acid decarboxylase contribute to thyronamine biosynthesis?
43. Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity
44. The Novel P330L Pathogenic Variant of Aromatic Amino Acid Decarboxylase Maps on the Catalytic Flexible Loop Underlying its Crucial Role
45. Deoxygenation affects tyrosine phosphoproteome of red cell membrane from patients with sickle cell disease
46. Peroxiredoxin-2 expression is increased in β-thalassemic mouse red cells but is displaced from the membrane as a marker of oxidative stress
47. Multiple roles of the active site lysine of Dopa decarboxylase
48. Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]
49. Mitapivat Treatment Increases β-Thalassemic Erythroblasts Energy Production and Responsiveness to Oxidative Stress
50. Reactions of human liver peroxisomal alanine:glyoxylate aminotransferase with β-chloro- L-alanine and L-cysteine: Spectroscopic and kinetic analysis
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