Biochemical‐structural‐phenotypic correlation of adenylosuccinate lyase deficiency based on analysis of mutant enzyme complexes
نویسندگان
چکیده
منابع مشابه
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data
We readwith great interest the recent paper byDonti et al. [1] on the diagnosis of adenylosuccinate lyase deficiency via plasma metabolomics. In their Supplementary Table S3, the authors provide the allele frequency for previously reported ADSLmutations. Based on this data, and adding the allele frequency of other pathogenic variants, one can estimate the minimal prevalence of the disease. The ...
متن کاملClinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme. Because ADSL-deficient patients display widely variable degrees of psychomotor r...
متن کاملTowards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causing severe mental retardation and/or autistic features. 2 Seizures are often observed (80%), varying in age of onset (from newborn to late childhood) and nature (tonic-clonic, “suppression burst” pattern, West syndrome, etc), and are very often resistant to all medication. Around 50% of the children s...
متن کاملThe kinetics of adenylosuccinate lyase.
Initial rate kinetics, product inhibition patterns, and equilibrium kinetics all indicate that cleavage of adenylosuccinate (AMP-S) by yeast adenylosuccinate lyase proceeds primarily by a reaction in which fumarate leaves the enzyme before AMP and cannot bind to free enzyme at kinetically significant concentrations. The alternate path, in which AMP leaves first, could be detected at equilibrium...
متن کاملfabrication of new ion sensitive field effect transistors (isfet) based on modification of junction-fet for analysis of hydronium, potassium and hydrazinium ions
a novel and ultra low cost isfet electrode and measurement system was designed for isfet application and detection of hydronium, hydrazinium and potassium ions. also, a measuring setup containing appropriate circuits, suitable analyzer (advantech board), de noise reduction elements, cooling system and pc was used for controlling the isfet electrode and various characteristic measurements. the t...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2010
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.24.1_supplement.889.7