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Acremonium cellulolyticus is one of several fungi that offer promise as an alternative to Trichoderma reesei for use in industrial cellulase production. However, the mechanism of cellulase production has not been studied at the molecular level because adequate genetic engineering tools for use in A. cellulolyticus are lacking. In the present study, we developed a gene disruption method for A. cellulolyticus...
We report 7 patients with pyruvate dehydrogenase (PDH) deficiency caused by mutations of the PDH-E1α subunit. Each patient had a different mutation; 4 with duplicate insertions, 1 with a deletion of tandem repeat, and 2 with point mutations. Five of the mutations were novel, thus confirming allelic heterogeneity. Immunoblot analysis revealed decreased immunoreactivity for the E1α and E1β subunits...
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