1192 PRENATAL THERAPY OF HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
نویسندگان
چکیده
منابع مشابه
Holocarboxylase Synthetase-dependent Biotinylation of Histone H4
Holocarboxylase synthetase (HCS) catalyzes the binding of biotin to lysine (K) residues in histones H3 and H4. Histone biotinylation marks play important roles in the repression of genes and retrotransposons. Preliminary studies suggest that K16 in histone H4 is a target for biotinylation by HCS. Here we tested the hypothesis that H4K16bio is a real histone mark in human chromatin, and that H4K...
متن کاملReduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Multiple carboxylase deficiency is a clinical condition caused by defects in the enzymes involved in biotin metabolism, holocarboxylase synthetase (HLCS) or biotinidase. HLCS deficiency is a potentially fatal condition if left untreated, although the majority of patients respond to oral supplementation of 10-20 mg/day of biotin. Patients who display incomplete responsiveness to this therapy hav...
متن کاملReduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
The attachment of biotin to apocarboxylases is catalyzed by holocarboxylase synthetase (HCS). An inherited deficiency of HCS results in the disorder 'multiple carboxylase deficiency', which is characterized by reduced activity of all biotin-dependent carboxylases. Here we show that the majority of HCS localizes to the nucleus rather than the cytoplasm based on immunofluorescence studies with an...
متن کاملHolocarboxylase Synthetase 1 Physically Interacts with Histone H3 in Arabidopsis
Biotin is a water-soluble vitamin required by all organisms, but only synthesized by plants and some bacterial and fungal species. As a cofactor, biotin is responsible for carbon dioxide transfer in all biotin-dependent carboxylases, including acetyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. Adding biotin to carboxylases is catalyzed by the enzyme holocarboxylas...
متن کاملFurther studies on the properties of liver propionyl coenzyme A holocarboxylase synthetase and the specificity of holocarboxylase formation.
In the present study it was found that a relatively rapid exchange reaction, dependent on the presence of Mg++ ions and the synthetase as well as biotin, occurs only if unusually high PPi concentrations are employed. The M, of PPi is 3.3 X 10e2 M, and the enzyme is not saturated by PPi concentrations approaching maximum solubility in the reaction mixture. The IL of biotin for the exchange react...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1981
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198104001-01218