Polymorphisms of Codons 110, 146, 211 and 222 at the Goat PRNP Locus and Their Association with Scrapie in Greece

Autor: Athanasios I. Gelasakis, Evridiki Boukouvala, Maria Babetsa, Efstathios Katharopoulos, Vayia Palaska, Dimitra Papakostaki, Nektarios D. Giadinis, Dimitrios Loukovitis, Jan P. M. Langeveld, Loukia V. Ekateriniadou

Publikováno v: Animals, Vol 11, Iss 8, p 2340 (2021)

Scrapie is considered an endemic disease in both sheep and goats in Greece. However, contrary to sheep, in goats more than one prion protein (PrP) polymorphism has been recognized as a candidate for resistance breeding against the disease. For an imp

Externí odkaz: https://doaj.org/article/b87f18fe3d494288938d954342344cd3

In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity

Autor: Efstathios Katharopoulos, Christa E. Flück, Amit V. Pandey, Kay Sauter

Publikováno v: The Journal of Steroid Biochemistry and Molecular Biology. 190:263-272

Androgens are steroid hormones essential for human male and female development. Steroid reductases 5α (SRD5As) are key enzymes in androgen biosynthesis. Mutations in the human SRD5A2 are known to cause loss-of-function and severe 46,XY underviriliza

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a462bd9c65ed8bdeda616c6ffad207
https://doi.org/10.1016/j.jsbmb.2019.01.017

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

Autor: Shraddha Dubey, Efstathios Katharopoulos, Núria Camats, Flavia Napoli, Marilea Lezzi, Mohamad Maghnie, Natascia Di Iorgi, Amit V. Pandey, Christa E. Flück, Michael Groessl, Giuseppa Patti, Paula Fernández-Álvarez

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 17
Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185
International Journal of Molecular Sciences, Vol 21, Iss 6185, p 6185 (2020)

Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit steroid biosynthesis. We describe a case report diagnosed with adrenal insufficiency due to low adrenal steroids and adrenocorticotropic hormone exces

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60886559e608d610afd346134c9a9132
https://pubmed.ncbi.nlm.nih.gov/32867102

MON-219 In Silico and in Vitro Studies of Human 5α-Reductase Type II Variants in Search for Activating Variants Explaining Androgen Excess Reveal New Loss-Of-Function Variants

Autor: Amit V. Pandey, Efstathios Katharopoulos, Kay Sauter, Christa E Flueck

Publikováno v: Journal of the Endocrine Society

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen recepto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e21d5a691af4020c0b64f989f67faa
https://doi.org/10.1210/js.2019-mon-219

Microbiological and physicochemical changes during fermentation of solid residue of olive mill wastewaters: Exploitation towards the production of an olive paste – type product

Autor: Magdalini Hatzikamari, Evanthia Litopoulou-Tzanetaki, Efstathios Katharopoulos, Ilias Nanis, Dimitrios Gerasopoulos, Loukia V. Ekateriniadou, Evridiki Boukouvala

Publikováno v: LWT. 117:108671

Τo exploit the solid residue of olive mill wastewaters (OMWS) towards the production of an olive paste-type product, natural fermentation of OMWS in NaCl (6% w/v) was implemented for 14 days at 20 °C. The microbiological and physicochemical charact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d30a34d01aad6a80b97c437f99352805
https://doi.org/10.1016/j.lwt.2019.108671