179 results on '"Bertoldi, Mariarita"'
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2. Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
3. An attenuated, adult case of AADC deficiency demonstrated by protein characterization
4. The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
5. Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency
6. Oxygen reactivity with pyridoxal 5′-phosphate enzymes: biochemical implications and functional relevance
7. Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants
8. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: implication in AADC deficiency
9. A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis
10. The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
11. Phosphorylation of pyridoxal 5′-phosphate enzymes: an intriguing and neglected topic
12. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
13. Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency
14. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
15. The presence and severity of epilepsy coincide with reduced GABA and cortical excitatory markers in SSADH deficiency
16. The Integrated Approach to Inherited Disorders in Neurotransmitters from Molecules to Systems
17. Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population
18. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
19. Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity
20. Mitapivat Treatment Increases β-Thalassemic Erythroblasts Energy Production and Responsiveness to Oxidative Stress
21. Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
22. Tyrosine Phosphorylation Modulates Peroxiredoxin-2 Activity in Normal and Diseased Red Cells
23. Structural Insights into the Heme Pocket and Oligomeric State of Non-Symbiotic Hemoglobins from Arabidopsis thaliana
24. Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
25. Protective Effect of Epigallocatechin-3-Gallate (EGCG) in Diseases with Uncontrolled Immune Activation: Could Such a Scenario Be Helpful to Counteract COVID-19?
26. Site-directed Mutagenesis Provides Insight into Racemization and Transamination of Alanine Catalyzed by Treponema denticola Cystalysin
27. Mutation of residues in the coenzyme binding pocket of Dopa decarboxylase: Effects on catalytic properties
28. Lysine 238 Is an Essential Residue for α,β-Elimination Catalyzed by Treponema denticola Cystalysin
29. Treponema denticola cystalysin catalyzes β-desulfination of L-cysteine sulfinic acid and β-decarboxylation of L-aspartate and oxalacetate
30. Mutation of Tyrosine 332 to Phenylalanine Converts Dopa Decarboxylase into a Decarboxylation-dependent Oxidative Deaminase
31. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations
32. Pathogenic variants of human Aromatic L-Amino Acid Decarboxylase: evidences of misfolding in functionally active variants
33. Reaction Specificity of Native and Nicked 3,4-Dihydroxyphenylalanine Decarboxylase
34. Oxidative Stress and β-Thalassemic Erythroid Cells behind the Molecular Defect
35. Peroxiredoxin-2 (Prx2) expression is increased in beta thalassemic mouse red cells but displaced from the membrane as marker of oxidative stress
36. Phosphorylation of pyridoxal 5′-phosphate enzymes: an intriguing and neglected topic.
37. Reaction and substrate specificity of pig kidney Dopa decarboxylase under aerobic and anaerobic conditions
38. Dopa decarboxylase exhibits low pH half-transaminase and high pH oxidative deaminase activities toward serotonin
39. Reaction of dopa decarboxylase with L-aromatic amino acids under aerobic and anaerobic conditions
40. Reaction specificity of native and nicked 3,4-dihydroxyphenylalanine
41. Ornithine and glutamate decarboxylases catalyse an oxidative deamination of their alpha-methyl substrates
42. Reaction of Dopa decarboxylase with alfa-methylDopa leads to an oxidative deamination producing 3,4-dihydroxyphenylacetone, an active-site directed affinity label
43. Oxidative Stress andβ-Thalassemic Erythroid Cells behind the Molecular Defect
44. The activity on double-stranded RNA of aggregates of Ribonuclease A higher than dimers increases as a function of the size of the aggregates
45. Artificial Ribonuclease A oligomers degrade double-stranded RNA with efficiency that increases as a function of the size of the oligomer
46. Resveratrol Induces Erythroid Maturation by Activating FOXO3 and Improves in Vivo Erythropoiesis in Normal and Beta -Thalassemic Mice
47. Pharmacological Inhibition of Calpain-1 Prevents Red Cell Dehydration and Reduces Gardos Channel Activity in a Mouse Model of Sickle Cell Disease. Identification of Druggable Protease Target
48. OXIDATIVE STRESS MODULATES HEME LEVELS and INDUCES PEROXIREDOXIN-2 IN β THALASSEMIC ERYTHROPOIESIS as NOVEL CYTOPROTECTIVE RESPONSE
49. Peroxiredoxin-2 (Prx2) Membrane Displacement is A New Additional Factor to the Severity of β-Thalassemic Mouse Red Cell Membrane Damage.
50. Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications
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