Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To enhance the phosphorylating activity of the bacterial nonspecific acid phosphatase from Salmonella enterica ser. typhimurium LT2 towards dihydroxyacetone (DHA), a mutant library was generated from the native enzyme. Three different variants that showed enhanced activity were identified after one round of epPCR. The single mutant V78L was the most active and showed an increase in the maximal DHAP concentration to 25 % higher than that of the wild-type enzyme at pH 6.0. This variant is 17 times more active than the wild-type acid phosphatase from Salmonella enterica ser. typhimurium LT2 in the acid phosphatase/aldolase cascade reaction at pH 6.0 and is also six times more active than the phosphatase from Shigella flexneri that we previously used.
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PMID:Improvement of an acid phosphatase/DHAP-dependent aldolase cascade reaction by using directed evolution. 1962 95

Herein, we report a new flow process with immobilized enzymes to synthesize complex chiral carbohydrate analogues from achiral inexpensive building blocks in a three-step cascade reaction. The first reactor contained immobilized acid phosphatase, which phosphorylated dihydroxyacetone to dihydroxyacetone phosphate using pyrophosphate as the phosphate donor. The second flow reactor contained fructose-1,6-diphosphate aldolase (RAMA, rabbit muscle aldolase) or rhamnulose-1-phosphate aldolase (RhuA from Thermotoga maritima) and acid phosphatase. The immobilized aldolases coupled the formed dihydroxyacetone phosphate to aldehydes, resulting in phosphorylated carbohydrates. A final reactor containing acid phosphatase that dephosphorylated the phosphorylated product yielded the final product. Different aldehydes were used to synthesize carbohydrates on a gram scale. To demonstrate the feasibility of the flow systems, we synthesized 0.6 g of the D-fagomine precursor. By using immobilized aldolase RhuA we were also able to obtain other stereoisomers of the D-fagomine precursor.
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PMID:Synthesis of carbohydrates in a continuous flow reactor by immobilized phosphatase and aldolase. 2315 Feb 41

We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen. Some, but not all, glycogenoses, may result in skeletal muscle pathology. Among those that result in vacuolar myopathic changes, glycogen storage disease III or debrancher enzyme deficiency, an autosomal recessive condition, is less commonly encountered than acid maltase (Type II) and myophosphorylase (Type V) deficiencies. Many patients with debrancher enzyme deficiency also have liver involvement. The neurological examination of our patient showed mild proximal limb weakness and decreased reflexes. He had elevated creatine kinase and aldolase levels. He also demonstrated some elevations in his liver function tests, suggesting possible liver involvement. A skeletal muscle biopsy demonstrated vacuolar myopathic changes (acid phosphatase negative) accompanied by focal endomysial fibrosis and chronic inflammation. An ultrastructural examination showed that his vacuoles were filled with glycogen material. An enzyme assay of skeletal muscle tissue showed a significant decrease in debrancher enzyme activity (11% of normal). We review the typical clinical presentation of patients with glycogenosis III and discuss the differential diagnoses of glycogenosis III versus the other glycogenoses resulting in vacuolar myopathy.
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PMID:Pathological characteristics of glycogen storage disease III in skeletal muscle. 2606 41

Five male Irish Terrier puppies had a stiff gait, difficulty in swallowing, dirty cheeks because of food residues, an enlarged tongue and atrophic muscles. At electromyographical examination high-frequency discharges suggestive of myotonia were present. The values for serum creatine-phosphokinase and aldolase were extremely high. Serum vitamin E values were normal. At necropsy the muscles were pale with yellowish white streaks. Histologically there was a patchy distribution of the lesions. Granular and floccular changes (Zenker's degeneration) with phagocytosis, giant cells and calcification were found. Histochemical changes were the same in all muscles investigated, but were not equally pronounced. In the muscle specimens with greatest change the distinction between type I and type II fibres was largely lost. Rounded hypertrophic fibres contained no glycogen, and most did not show activity of phosphorylase, dehydrogenases, and oxidases. Activity of glyccrol-3-phosphate oxidase and acid phosphatase was markedly increased. Abnormal mitochondria and unknown electron-dense bodies were found. The tubular system seemed to be reduced in some abnormal fibres. The disease is probably recessive X-linked.
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PMID:Myopathy with a Possible Recessive X-Linked Inheritance in a Litter of Irish Terriers. 2988 6


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