Bauhinia bauhinioides Cruzipain Inhibitor (BbCI) is a cysteine protease inhibitor highly homologous to plant Kunitz-type inhibitors. However, in contrast to classical Kunitz family inhibitors it lacks cysteine residues and therefore disulfide bridges. BbCI is also distinct in the ability to inactivate enzymes belonging to two different classes, cysteine and serine proteases. Besides inhibiting the cysteine prot...
Machado-Joseph disease (MJD/SCA3) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG tract in the coding portion of the ATXN3 gene. The presence of ubiquitin-positive aggregates of the defective protein in affected neurons is characteristic of this and most of the polyglutamine disorders. Recently, the accumulation of the neural precursor cell expressed developmentally downregul...
We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein sur...
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