Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase
نویسندگان
چکیده
منابع مشابه
Clinical, 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...
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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...
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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 ...
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distribution of the surrounding downwelling light. Deep-sea fishes that have instead evolved to detect bioluminescent point sources have eyes constructed accordingly, typically having a high spatial resolution provided by a retinal area of tightly packed visual cells arranged in a deep pit-like fovea. Their eyes, though, are often quite small, with pupils only as large as necessary to detect po...
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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...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2018
ISSN: 2045-2322
DOI: 10.1038/s41598-018-36195-5