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Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry

International journal of molecular sciences, 2021-03, Vol.22 (6), p.3146

2021

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Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects

Biochimica et biophysica acta. Proteins and proteomics, 2021-01, Vol.1869 (1), p.140555-140555, Article 140555

2021

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Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3369

2023

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R180T variant of δ‐ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X‐ray and NMR studies provide insight into its catalytic features

The FEBS journal, 2019-07, Vol.286 (14), p.2787-2798

2019

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Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations

IUBMB life, 2018-03, Vol.70 (3), p.215-223

2018

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New Insights Emerging from Recent Investigations on Human Group II Pyridoxal 5'-Phosphate Decarboxylases

Current medicinal chemistry, 2017-01, Vol.24 (3), p.226-244

2017

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Folding Defects Leading to Primary Hyperoxaluria

Targeting Trafficking in Drug Development, 2018-01, Vol.245, p.313-343

2018

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Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications

Biochemical journal, 2007-11, Vol.408 (1), p.39-50

2007

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Identification by virtual screening and in vitro testing of human DOPA decarboxylase inhibitors

PloS one, 2012-02, Vol.7 (2), p.e31610

2012

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Cofactor-dependent conformational heterogeneity of GAD65 and its role in autoimmunity and neurotransmitter homeostasis

Proceedings of the National Academy of Sciences - PNAS, 2014-06, Vol.111 (25), p.E2524-E2529

2014

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The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase

The international journal of biochemistry & cell biology, 2012-03, Vol.44 (3), p.536-546

2012

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The chaperone role of the pyridoxal 5′-phosphate and its implications for rare diseases involving B6-dependent enzymes

Clinical biochemistry, 2014-02, Vol.47 (3), p.158-165

2014

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New variants of AADC deficiency expand the knowledge of enzymatic phenotypes

Archives of biochemistry and biophysics, 2020-03, Vol.682, p.108263-108263, Article 108263

2020

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A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

Molecular genetics and metabolism, 2019-06, Vol.127 (2), p.132-137

2019

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Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5′-Phosphate Histidine Decarboxylase

Biochemistry (Easton), 2018-11, Vol.57 (44), p.6336-6348

2018

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Radiation damage at the active site of human alanine:glyoxylate aminotransferase reveals that the cofactor position is finely tuned during catalysis

Scientific reports, 2017-09, Vol.7 (1), p.11704-11, Article 11704

2017

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Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases

Proceedings of the National Academy of Sciences - PNAS, 2011-12, Vol.108 (51), p.20514-20519

2011

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Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency

Journal of inherited metabolic disease, 2011-12, Vol.34 (6), p.1213-1224

2011

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Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine

Biochimica et biophysica acta, 2015-10, Vol.1854 (10), p.1280-1289

2015

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Phosphorylation of pyridoxal 5′-phosphate enzymes: an intriguing and neglected topic

Amino acids, 2018-02, Vol.50 (2), p.205-215

2018

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Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase

The Protein Journal, 2017-06, Vol.36 (3), p.174-185

2017

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Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I

Molecular genetics and metabolism, 2012-01, Vol.105 (1), p.132-140

2012

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Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T

Biochimie, 2016-12, Vol.131, p.137-148

2016

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Pyridoxal 5'-phosphate enzymes as targets for therapeutic agents

Current medicinal chemistry, 2007-05, Vol.14 (12), p.1291-1324

2007

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Probing the Role of Tyr 64 of Treponema denticola Cystalysin by Site-Directed Mutagenesis and Kinetic Studies

Biochemistry (Easton), 2005-10, Vol.44 (42), p.13970-13980

2005

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Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects

Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina

R180T variant of δ‐ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X‐ray and NMR studies provide insight into its catalytic features

Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations

New Insights Emerging from Recent Investigations on Human Group II Pyridoxal 5'-Phosphate Decarboxylases

Folding Defects Leading to Primary Hyperoxaluria

Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications

Identification by virtual screening and in vitro testing of human DOPA decarboxylase inhibitors

Cofactor-dependent conformational heterogeneity of GAD65 and its role in autoimmunity and neurotransmitter homeostasis

The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase

The chaperone role of the pyridoxal 5′-phosphate and its implications for rare diseases involving B6-dependent enzymes

New variants of AADC deficiency expand the knowledge of enzymatic phenotypes

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5′-Phosphate Histidine Decarboxylase

Radiation damage at the active site of human alanine:glyoxylate aminotransferase reveals that the cofactor position is finely tuned during catalysis

Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases

Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency

Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine

Phosphorylation of pyridoxal 5′-phosphate enzymes: an intriguing and neglected topic

Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I

Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T

Pyridoxal 5'-phosphate enzymes as targets for therapeutic agents

Probing the Role of Tyr 64 of Treponema denticola Cystalysin by Site-Directed Mutagenesis and Kinetic Studies

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