Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The activity of [Na+ + K+] Mg2+-ATPase of muscle surface membrane was investigated in 20 cases of the Duchenne type of progressive muscular dystrophy; it was found to be diminished and to have a changed reactivity to ouabain. There was nothing like it in cases of limb-girdle dystrophy and neurogenic muscular atrophies investigated for the purpose of comparisons, whereas in some cases of myotonic dystrophy and myotonia congenita the activity of the ATPase was indeed depressed, but the response to ouabain invariably remained normal.
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PMID:[Na+ + K+] Mg2+-ATPase of muscle plasma membranes in Duchenne muscular dystrophy. 625 58

A sensitive enzyme-linked immunoadsorbant assay was developed to quantify Ca(2+)-ATPase and calsequestrin from sarcoplasmic reticulum in human muscle biopsies. Tissue levels of Ca(2+)-ATPase and calsequestrin averaged 51.5 +/- 28.1 and 6.4 +/- 1.8 mg/g muscle protein, respectively, in control muscles (means +/- SD, n = 12). The high sensitivity and specificity of the antibodies make the assay a useful tool in the diagnosis of human neuromuscular disorders where defects in sarcoplasmic reticulum function may be expected. The assay was applied to muscle biopsies from patients with myotonia congenita and paramyotonia congenita Eulenburg. The calsequestrin concentration was normal in all patient muscles. The Ca(2+)-ATPase content was also within the normal range but varied considerably with the percentage distribution of slow-twitch fibres. This indicates that the prolonged relaxation observed in the muscles of patients with these disorders is not caused by faulty expression of Ca(2+)-ATPase and calsequestrin.
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PMID:Immunochemical quantification of sarcoplasmic reticulum Ca(2+)-ATPase and calsequestrin in muscle biopsies from patients with myotonia congenita and paramyotonia congenita Eulenburg. 785 84