Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Eva, Richard"'
Autor:
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J. Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102101- (2024)
Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic sequence variation. Activation increases pseudoexon inclusion in mRNA and interferes with normal gene expression. The PCCA c.1285-1416A>G variation activates a ps
Externí odkaz:
https://doaj.org/article/ff8b723093454117929845437197aef9
Autor:
Laura Arribas-Carreira, Margarita Castro, Fernando García, Rosa Navarrete, Irene Bravo-Alonso, Francisco Zafra, Magdalena Ugarte, Eva Richard, Belén Pérez, Pilar Rodríguez-Pombo
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2814 (2024)
The pathophysiology of nonketotic hyperglycinemia (NKH), a rare neuro-metabolic disorder associated with severe brain malformations and life-threatening neurological manifestations, remains incompletely understood. Therefore, a valid human neural mod
Externí odkaz:
https://doaj.org/article/e213bcbd384c4f63b0c53c5517148239
Autor:
Leandro R. Soria, Georgios Makris, Alfonso M. D’Alessio, Angela De Angelis, Iolanda Boffa, Veronica M. Pravata, Véronique Rüfenacht, Sergio Attanasio, Edoardo Nusco, Paola Arena, Andrew T. Ferenbach, Debora Paris, Paola Cuomo, Andrea Motta, Matthew Nitzahn, Gerald S. Lipshutz, Ainhoa Martínez-Pizarro, Eva Richard, Lourdes R. Desviat, Johannes Häberle, Daan M. F. van Aalten, Nicola Brunetti-Pierri
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Hyperammonemia occurs in liver diseases affecting ureagenesis, and is life-threatening. Here, the authors show that liver UDP-GlcNAc is increased during hyperammonemia, leading to O-GlcNAcylation of the rate-limiting ureagenesis enzyme CPS1, that enh
Externí odkaz:
https://doaj.org/article/f7dd4ac66ee843bca09996d7cef4b0de
Publikováno v:
In Experimental Eye Research October 2021
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2182 (2023)
Propionic acidemia (PA) disorder shows major involvement of the heart, among other alterations. A significant number of PA patients develop cardiac complications, and available evidence suggests that this cardiac dysfunction is driven mainly by the a
Externí odkaz:
https://doaj.org/article/df2624477db744d0aa54109c83593135
Autor:
Alejandro Fulgencio-Covián, Mar Álvarez, Barry A. Pepers, Arístides López-Márquez, Magdalena Ugarte, Belén Pérez, Willeke M.C. van Roon-Mom, Lourdes R. Desviat, Eva Richard
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102055- (2020)
Propionic acidemia (PA) is an inherited metabolic disease caused by mutations in the PCCA and PCCB genes. We have previously generated an induced pluripotent stem cell (iPSC) line (UAMi004-A) from a PA patient with the c.1218_1231del14ins12 (p.Gly407
Externí odkaz:
https://doaj.org/article/0cddeb393538497a9576e906658518a1
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 7 (2020)
Clinical observations and experimental studies have determined that systemic acid-base disturbances can profoundly affect the heart. A wealth of information is available on the effects of altered pH on cardiac function but, by comparison, much less i
Externí odkaz:
https://doaj.org/article/630fa8e7214e4005b591abb7f3c139c2
Autor:
Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard
Publikováno v:
Stem Cell Research, Vol 23, Iss C, Pp 173-177 (2017)
Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430−−?_1643+?del; p.(Gly477Glufs*9). Repr
Externí odkaz:
https://doaj.org/article/1fd936ac932742b3b2f236af9a1d0661
Autor:
Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A. Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes R Desviat
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients’ plasma samples to investigate the role of miRNAs in the pathophysiology of the disease and to identify novel biomarkers and therapeutic
Externí odkaz:
https://doaj.org/article/81f02db56c494ec3a74cb8d4bc20b7c9