Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.31 (beta-glucuronidase)
 7,680 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five patients in a large pedigree with autosomal dominant palmoplantar keratoderma and/or an ichthyosiform dermatosis were studied. Biopsies of the keratoderma, a remote hyperkeratotic plaque on an arm and the ichthyosis all revealed the same histopathologic changes including hyperkeratosis with round retained nuclei. All 5 patients had elevated serum beta-glucuronidase activity. The significance of beta-glucuronidase in this and other skin diseases is discussed.
 ...
PMID:Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase. 297 87

Experimental mouse chimeras were used to determine the site(s) of gene action in the weaver mutant cerebellum. Chimeras containing mixtures of heterozygous weaver (wv/+) and non-weaver (+/+) cells were produced by the standard embryo aggregation technique. The non-weaver component of the chimera was chosen so that Purkinje cells or granule cells could be distinguished histologically from weaver Purkinje or granule cells. Levels of beta-glucuronidase activity were used to mark Purkinje cells, with the weaver strain having a high beta-glucuronidase activity, while the non-weaver strain had low beta-glucuronidase activity. The increased centralized clumping of heterochromatin in ichthyosis (ic) mutant mice compared to non-ic mice was used to mark granule cell populations. In the weaver chimera, there was a decreased cerebellar size, decreased numbers of Purkinje and granule cells, and increased ectopic Purkinje and granule cells compared to non-weaver, control mice. With the glucuronidase cell marker, it was found that there was no correlation between ectopia and genotype; that is, genetically normal cells, as well as weaver cells, were found in ectopic positions. Thus, the weaver gene acts extrinsic to the Purkinje cells in creating the ectopia characteristic of heterozygous weaver mutants. Analysis of the ectopic granule cells, however, revealed that 100% of the ectopic granule cells were from the weaver component of the chimera. Thus, the weaver gene intrinsically affects granule cells in causing ectopia. Other hypothetical sites of gene action would produce a genetically mixed population of ectopic granule cells, which was not the case in this study. These findings are discussed in relation to other abnormalities in the heterozygous weaver mutant and in regard to the Bergmann glia and homozygous mutant. Finally, speculations on the nature of the granule cell deficit are discussed briefly.
 ...
PMID:Granule cell as a site of gene action in the weaver mouse cerebellum: evidence from heterozygous mutant chimeras. 711 68