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Article

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.

Human mutation - 1 Apr 2010

Zikanova Marie, Skopova Vaclava, Hnizda Ales, Krijt Jakub, Kmoch Stanislav

Abstract excerpt

Adenylosuccinate lyase (ADSL) deficiency is neurometabolic disease characterized by accumulation of dephosphorylated enzyme substrates SAICA-riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids of affected individuals. The phenotypic severity differs considerably among patients: neonatal fatal, severe childhood, and moderate phenotypic forms correlating with different values for the ratio between S-Ado...

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Electrophoresis, Polyacrylamide Gel
Enzyme Stability
Genetic Heterogeneity
Infant, Newborn
Multienzyme Complexes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutant Proteins

Protein Structure, Secondary

Structure-Activity Relationship

Source

Identifiers

PMID: 20127976
DOI: 10.1002/humu.21212

Genes

ADSL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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