Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.4 (chondroitinase)
 2,039 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Skin biopsies from patients with pseudoxanthoma elasticum (PXE) were studied by electron microscopy either before or after selective digestions with collagenase, elastase, trypsin, hyaluronidase, chondroitinase AC and ABC, with the aim of identifying an eventual organic component associated with mineralization within the elastin fibers and the chemical nature of the enormous aggregates of filaments very often associated with, but distinct from mineralized elastin fibers. The results obtained, on both embedded thin sections and fresh tissue fragments, showed that elastin fibers, whether mineralized or not, were sensitive only to elastase, and they did not contain significant amounts of materials different from elastin that could be accounted for by ion precipitation; the aggregates of microfilaments in strict connection with altered elastin fibers were mostly sensitive to elastase and hyaluronidase, were partially removed by trypsin and chondroitinase, and were not modified by collagenase, which seems to indicate that the microfilaments consist mainly of abnormally aggregated elastin molecules together with low sulfated proteoglycans. It may be concluded that PXE is a complex genetic disorder of the connective tissue, and that mineralization of elastin is only one of the alterations of the extracellular matrix.
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PMID:Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: an ultrastructural study. 301 57

Mucopolysacchariodosis IVA is a lysosomal storage disorder characterized by deficiency of the enzyme N-acetylgalactosamine-6-sulfatase leading to accumulation of glycosaminoglycans. Mucopolysacchariodosis IVA affects many organs, especially the skeletal system. The disease is progressive, leads to serious cardiopulmonary problems and is severely debilitating. Enzyme replacement therapy with elosulfase alfa is the only approved treatment for this rare genetic condition. The results from a Phase III clinical trial demonstrated that elosulfase alfa at dose 2.0 mg/kg weekly given intravenously improved the walking distance in 6 min. The results of the 3-min stair climb test and respiratory function test did not show statistically significant improvement over the placebo. However, the composite end point analysis combining changes from baseline in walking distance in 6 min, 3-min stair climb test and respiratory function showed that at dose 2.0 mg/kg weekly, subjects performed better than the placebo, indicating that the effects of treatment are clinically meaningful. Serious side effects are uncommon and infusion-associated reactions are manageable.
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PMID:Elosulfase alfa for the treatment of mucopolysacchoridosis IVA. 3028 33