Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione syndrome

1981 ◽  
Vol 271 (3) ◽  
pp. 341-346
Author(s):  
N. Okada ◽  
Y. Kitano
1978 ◽  
Vol 31 (4) ◽  
pp. 415 ◽  
Author(s):  
PG Johnston ◽  
GB Sharman ◽  
Elizabeth A James ◽  
DW Cooper

Expression of the sex-linked enzyme glucose-6-phosphate dehydrogenase (G6PD) was examined electrophoretically in tissues and cultured fibroblasts of female kangaroo heterozygotes ranging in age from 26 days post part urn to adult. All tissues expressed only the maternally derived allele irrespective of which allele was maternal or paternal in origin.


2000 ◽  
Vol 75 (3) ◽  
pp. 269-274 ◽  
Author(s):  
DEBBIE WATSON ◽  
ANITA S. JACOMBS ◽  
DAVID A. LOEBEL ◽  
EDWARD S. ROBINSON ◽  
PETER G. JOHNSTON

cDNA sequence analysis of the X-linked glucose-6-phosphate dehydrogenase (G6PD) gene has shown a base difference between two subspecies of the kangaroo, Macropus robustus robustus (wallaroo) and M. r. erubescens (euro). A thymine residue in the wallaroo at position 358 in exon 5 has been replaced by a cytosine residue in the euro, which accounts for the previously reported electrophoretic difference between the two subspecies. This base difference allowed use of the Single Nucleotide Primer Extension (SNuPE) technique to study allele-specific expression of G6PD at the transcriptional level. We began by examining G6PD expression in somatic cells and observed complete paternal X inactivation in all somatic tissues of adult female heterozygotes, whereas we found partial paternal allele activity in cultured fibroblasts, thus confirming previous allozyme electrophoresis studies. In late dictyate oocytes from an adult heterozygote, the assay also detected expression of both the maternal and paternal alleles at the G6PD locus, with the maternal allele showing preferential expression. Thus reactivation of the inactive paternally derived X chromosome occurs during oogenesis in M. robustus, although the exact timing of reactivation remains to be determined.


1973 ◽  
Vol 134 (4) ◽  
pp. 995-1000 ◽  
Author(s):  
John J. Harding

An unusually heat-labile fraction of glutathione reductase appears in human lens at about an age of 32 years. No such change was found in glucose 6-phosphate dehydrogenase nor in 3-phosphoglycerate kinase. The change is an intrinsic property of glutathione reductase. A greater proportion of the altered glutathione reductase was found in the core, the older part, of the lens. No evidence of a second band of activity was obtained after electrophoresis. Possible interpretations of the results, including errors of protein synthesis, production of a new isoenzyme and post-synthetic changes, are discussed.


1978 ◽  
Vol 31 (4) ◽  
pp. 425 ◽  
Author(s):  
Kathie A Raphael ◽  
DW Cooper

The level of the sex-linked enzyme glucose-6-phosphate dehydrogenase (G6PD) has been measured in cultured fibroblasts of M. rufogriseus and several other kangaroo species. The data obtained support the conclusion obtained from other evidence that there is a failure of dosage compensation at this locus in fibroblasts of females.


Author(s):  
Dean A. Handley ◽  
Cynthia M. Arbeeny ◽  
Larry D. Witte

Low density lipoproteins (LDL) are the major cholesterol carrying particles in the blood. Using cultured cells, it has been shown that LDL particles interact with specific surface receptors and are internalized via a coated pit-coated vesicle pathway for lysosomal catabolism. This (Pathway has been visualized using LDL labeled to ferritin or colloidal gold. It is now recognized that certain lysomotropic agents, such as chloroquine, inhibit lysosomal enzymes that degrade protein and cholesterol esters. By interrupting cholesterol ester hydrolysis, chloroquine treatment results in lysosomal accumulation of cholesterol esters from internalized LDL. Using LDL conjugated to colloidal gold, we have examined the ultrastructural effects of chloroquine on lipoprotein uptake by normal cultured fibroblasts.


2001 ◽  
Vol 120 (5) ◽  
pp. A700-A700
Author(s):  
S WIMERMACKIN ◽  
R HOLMES ◽  
A WOLF ◽  
W LENCER ◽  
M JOBLING

1969 ◽  
Vol 61 (1_Suppl) ◽  
pp. S46
Author(s):  
Georg W. Oertel ◽  
Peter Menzel ◽  
Ilse Rebelein

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