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Article

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

Biochemistry - 16 Jun 2009

Ariyananda Lushanti De Zoysa, Lee Peychii, Antonopoulos Christina, Colman Roberta F

Abstract excerpt

Adenylosuccinate lyase (ASL), a catalyst of key reactions in purine biosynthesis, is normally a homotetramer in which three subunits contribute to each of four active sites. Human ASL deficiency is an inherited metabolic disease associated with autism and mental retardation. We have characterized five disease-associated ASL mutants: R194C and K246E are located at subunit interfaces, L311V is in the central...

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Autistic Disorder
Circular Dichroism
Crystallography, X-Ray
Intellectual Disability
Molecular Weight

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Structure, Secondary

Spectrometry, Fluorescence

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Identifiers

PMID: 19405474
DOI: 10.1021/bi802321m
PMCID: PMC2745324

Genes

ASL

Variants

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Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.PMID 19405474Read ↗

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