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Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
- Published in:
- Protein Science: A Publication of the Protein Society, 2023, v. 32, n. 8, p. 1, doi. 10.1002/pro.4732
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- Publication type:
- Article
Pharmacological inhibition of calpain-1 prevents red cell dehydration and reduces Gardos channel activity in a mouse model of sickle cell disease.
- Published in:
- FASEB Journal, 2013, v. 27, n. 2, p. 750, doi. 10.1096/fj.12-217836
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- Publication type:
- Article
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
- Published in:
- 2021
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- Publication type:
- journal article
The Integrated Approach to Inherited Disorders in Neurotransmitters from Molecules to Systems.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15974, doi. 10.3390/ijms232415974
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- Publication type:
- Article
Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11238, doi. 10.3390/ijms231911238
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- Publication type:
- Article
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8578, doi. 10.3390/ijms21228578
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- Publication type:
- Article
Protective Effect of Epigallocatechin-3-Gallate (EGCG) in Diseases with Uncontrolled Immune Activation: Could Such a Scenario Be Helpful to Counteract COVID-19?
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- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 5171, doi. 10.3390/ijms21145171
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- Publication type:
- Article
Structural properties of trimers and tetramers of ribonuclease A.
- Published in:
- Protein Science: A Publication of the Protein Society, 2001, v. 10, n. 10, p. 2017, doi. 10.1110/ps.14101
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- Publication type:
- Article
Dopa decarboxylase exhibits low pH half-transaminase and high pH oxidative deaminase activities toward serotonin (5-hydroxytryptamine).
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- Protein Science: A Publication of the Protein Society, 2001, v. 10, n. 6, p. 1178, doi. 10.1110/ps.46601
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- Publication type:
- Article
Mutation of cysteine 111 in Dopa decarboxylase leads to active site perturbation.
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- Protein Science: A Publication of the Protein Society, 1997, v. 6, n. 9, p. 2007, doi. 10.1002/pro.5560060921
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- Publication type:
- Article
Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5237, doi. 10.3390/ijms25105237
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- Publication type:
- Article
Unique substrate specificity of ornithine aminotransferase from Toxoplasma gondii.
- Published in:
- Biochemical Journal, 2017, v. 474, n. 6, p. 939, doi. 10.1042/BCJ20161021
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- Publication type:
- Article
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
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- IUBMB Life, 2018, v. 70, n. 3, p. 215, doi. 10.1002/iub.1718
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- Publication type:
- Article
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09538-9
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- Publication type:
- Article
Mapping of Human Autoantibody Epitopes on Aromatic L-Amino Acid Decarboxylase.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 3, p. 1096, doi. 10.1210/jc.2006-2319
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- Publication type:
- Article
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
- Published in:
- Human Genetics, 2023, v. 142, n. 12, p. 1755, doi. 10.1007/s00439-023-02613-6
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- Publication type:
- Article
Structural Insights into the Heme Pocket and Oligomeric State of Non-Symbiotic Hemoglobins from Arabidopsis thaliana.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 12, p. 1615, doi. 10.3390/biom10121615
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- Publication type:
- Article
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04343-w
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- Publication type:
- Article
An engineered folded PLP-bound monomer of Treponema denticola cystalysin reveals the effect of the dimeric structure on the catalytic properties of the enzyme.
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- Proteins, 2009, v. 74, n. 2, p. 304, doi. 10.1002/prot.22160
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- Publication type:
- Article
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 476, doi. 10.1002/jimd.12735
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- Publication type:
- Article
Neurotransmitters ... it is all about communication!
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 409, doi. 10.1002/jimd.12748
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- Publication type:
- Article
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 413, doi. 10.1002/jimd.12675
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- Publication type:
- Article
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 12, p. 1596, doi. 10.1111/dmcn.15659
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- Publication type:
- Article
Oxidative Stress and β-Thalassemic Erythroid Cells behind the Molecular Defect.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2013, v. 2013, p. 1, doi. 10.1155/2013/985210
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- Publication type:
- Article
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1516, doi. 10.1111/epi.17592
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- Publication type:
- Article
Oxygen reactivity with pyridoxal 5′-phosphate enzymes: biochemical implications and functional relevance.
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- Amino Acids, 2020, v. 52, n. 8, p. 1089, doi. 10.1007/s00726-020-02885-6
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- Publication type:
- Article
Phosphorylation of pyridoxal 5′-phosphate enzymes: an intriguing and neglected topic.
- Published in:
- Amino Acids, 2018, v. 50, n. 2, p. 205, doi. 10.1007/s00726-017-2521-3
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- Publication type:
- Article
Tyrosine Phosphorylation Modulates Peroxiredoxin-2 Activity in Normal and Diseased Red Cells.
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- Antioxidants, 2021, v. 10, n. 2, p. 206, doi. 10.3390/antiox10020206
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- Publication type:
- Article
A quinonoid is an intermediate of oxidative deamination reaction catalyzed by Dopa decarboxylase
- Published in:
- FEBS Letters, 2005, v. 579, n. 23, p. 5175, doi. 10.1016/j.febslet.2005.08.029
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- Publication type:
- Article
Treponema denticola cystalysin catalyzes β-desulfination of L-cysteine sulfinic acid and β-decarboxylation of L-aspartate and oxalacetate
- Published in:
- FEBS Letters, 2003, v. 554, n. 3, p. 306, doi. 10.1016/S0014-5793(03)01178-5
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- Publication type:
- Article