Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Paula Rożen"'
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
The pathophysiology of Fabry nephropathy (FN) is induced by galactosidase A deficiency with a chronic exposure of glycolipids to every lineage of renal cells. Tissue damage is attributed to the activation of molecular pathways, resulting in tissue fi
Externí odkaz:
https://doaj.org/article/a223763f63804eaab77d568774926b2d
Autor:
Juan Marcos Mucci, Paula Rozenfeld
Publikováno v:
Journal of Immunology Research, Vol 2015 (2015)
Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macr
Externí odkaz:
https://doaj.org/article/3a6ad6fe9f674420b2db8052ab8782e6
Autor:
Karolina Jaworska, Weronika Staniszewska, Patrycja Gomza, Paula Rożen, Katarzyna Brzostek, Adrianna Raczkowska
Publikováno v:
Postępy Mikrobiologii - Advancements of Microbiology. 61:191-204
Streszczenie Małe, regulatorowe RNA (sRNA) wraz z dwuskładnikowymi systemami transdukcji sygnału (TCS) wchodzą w skład rozbudowanych sieci kontroli ekspresji genów bakteryjnych. Oddziałując ze sobą wzajemnie, zapewniają niezwykle szybką, j
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dad4b8f94dc1f718f42fb086c5085e36
https://doi.org/10.2478/am-2022-020
https://doi.org/10.2478/am-2022-020
Autor:
Raczkowska, Karolina Jaworska, Julia Konarska, Patrycja Gomza, Paula Rożen, Marta Nieckarz, Agata Krawczyk-Balska, Katarzyna Brzostek, Adrianna
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 11157
Iron is both essential for and potentially toxic to bacteria, so the precise maintenance of iron homeostasis is necessary for their survival. Our previous study indicated that in the human enteropathogen Yersinia enterocolitica, the regulator OmpR di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::a23547ee2c48ba710833a24f2fd77f2c
Autor:
Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, Joao Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga-Jauregui
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and c
Externí odkaz:
https://doaj.org/article/e5af34b144c34633a1480d3b1be74c12
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100708- (2021)
Fabry disease (FD) (Anderson-Fabry disease, OMIM 301500) is a genetic disorder caused by a pathogenic variant in the GLA gene on chromosome Xq22 that produces a deficiency in the lysosomal enzyme alpha-galactosidase A.It is transmitted as an X-linked
Externí odkaz:
https://doaj.org/article/9965c7a9298f4359b6c564147f7d7e48
Autor:
James C Moon, Albina Nowak, Derralynn A Hughes, Mark Thomas, Raphael Schiffmann, Ales Linhart, David G Warnock, Sandro Feriozzi, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Publikováno v:
BMJ Open, Vol 10, Iss 10 (2020)
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatmen
Externí odkaz:
https://doaj.org/article/d715f78e37c54b91a11df4c1b094fbaf