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Your search keyword '"Radhakant Sharma"' showing total 2 results
Start Over Author "Radhakant Sharma" Journal annals of neurology
2 results on '"Radhakant Sharma"'

1. Levodopa-responsive aromatic<scp>L</scp>-amino acid decarboxylase deficiency

Author

J. Lawrence Marsh, Radhakant Sharma, C. Brautigam, Keith Hyland, Yuh Terng Chang, Georg F. Hoffmann, John Douglas Mcpherson, Joey A. Bedell, and Andreas Knust

Subjects
chemistry.chemical_classification, Levodopa, Aromatic L-amino acid decarboxylase, Mutation, Carboxy-lyases, Chemistry, Point mutation, medicine.disease_cause, Molecular biology, Exon, Enzyme, Neurology, Biochemistry, Carbidopa, medicine, Neurology (clinical), medicine.drug
Abstract

We report three siblings, who were treated empirically with levodopa combined with carbidopa. There was an immediate therapeutic response. Biochemical investigation surprisingly showed the clinical phenotype to be caused by aromatic L–amino acid decarboxylase deficiency. Molecular characterization showed a homozygous point mutation (c.387 GA) in exon 3. Kinetic studies showed the mutation to decrease the binding affinity for the substrate. This, combined with structural modeling suggesting alteration of active site configuration, provided an explanation for the therapeutic response to levodopa. Ann Neurol 2004

Published
2004
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2. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

Author

Yuh Terng, Chang, Radhakant, Sharma, J Lawrence, Marsh, John D, McPherson, Joey A, Bedell, Andreas, Knust, Christa, Bräutigam, Georg F, Hoffmann, and Keith, Hyland

Subjects
Adult, Family Health, Male, Alanine, Binding Sites, Adolescent, Protein Conformation, Developmental Disabilities, DNA Mutational Analysis, Glycine, Carbidopa, Antiparkinson Agents, Levodopa, Models, Structural, Drug Combinations, Aromatic-L-Amino-Acid Decarboxylases, Electrochemistry, Humans, Point Mutation, Female, Chromatography, High Pressure Liquid, Protein Binding
Abstract

We report three siblings, who were treated empirically with levodopa combined with carbidopa. There was an immediate therapeutic response. Biochemical investigation surprisingly showed the clinical phenotype to be caused by aromatic L-amino acid decarboxylase deficiency. Molecular characterization showed a homozygous point mutation (c.387 G--A) in exon 3. Kinetic studies showed the mutation to decrease the binding affinity for the substrate. This, combined with structural modeling suggesting alteration of active site configuration, provided an explanation for the therapeutic response to levodopa.

Published
2004

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