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001-es BibID:BIBFORM076621
Első szerző:Koczok Katalin (labororvos)
Cím:Subcellular localization of sterol biosynthesis enzymes / Koczok Katalin, Gurumurthy Channabasavaiah B., Balogh István, Korade Zeljka, Mirnics Károly
Dátum:2019
ISSN:1567-2379
Megjegyzések:Cholesterol synthesis is a complex, coordinated process involving a series of enzymes. As of today, our understanding of subcellular localization of cholesterol biosynthesis enzymes is far from complete. Considering the complexity and intricacies of this pathway and the importance of functions of DHCR7, DHCR24 and EBP enzymes for human health, we undertook a study to determine their subcellular localization and co-localization. Using expression constructs and antibody staining in cell cultures and transgenic mice, we found that all three enzymes are expressed in ER and nuclear envelope. However, their co-localization was considerably different across the cellular compartments. Furthermore, we observed that in the absence of DHCR7 protein, DHCR24 shows a compensatory upregulation in a Dhcr7-/- transgenic mouse model. The overall findings suggest that the sterol biosynthesis enzymes might not always work in a same functional complex, but that they potentially have different, multifunctional roles that go beyond the sterol biosynthesis pathway. Furthermore, the newly uncovered compensatory mechanism between DHCR7 and DHCR24 could be of importance for designing medications that would improve cholesterol production in patients with desmosterolosis and Smith-Lemli-Opitz syndrome.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
DHCR7
EBP
DHCR24
7-Dehydrocholesterol
8-Dehydrocholesterol
Desmosterol
Megjelenés:Journal Of Molecular Histology. - 50 : 1 (2019), p. 63-73. -
További szerzők:Gurumurthy, Channabasavaiah B. Balogh István (1972-) (molekuláris biológus, genetikus) Korade, Zeljka Mirnics Károly
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