Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Lourdes R Desviat"'
Autor:
Suzan M Hammond, Annemieke Aartsma‐Rus, Sandra Alves, Sven E Borgos, Ronald A M Buijsen, Rob W J Collin, Giuseppina Covello, Michela A Denti, Lourdes R Desviat, Lucía Echevarría, Camilla Foged, Gisela Gaina, Alejandro Garanto, Aurelie T Goyenvalle, Magdalena Guzowska, Irina Holodnuka, David R Jones, Sabine Krause, Taavi Lehto, Marisol Montolio, Willeke Van Roon‐Mom, Virginia Arechavala‐Gomeza
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 4, Pp 1-23 (2021)
Abstract Nucleic acid‐based therapeutics that regulate gene expression have been developed towards clinical use at a steady pace for several decades, but in recent years the field has been accelerating. To date, there are 11 marketed products based
Externí odkaz:
https://doaj.org/article/76e52486fd764de6bb07b4e5106b079a
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
Autor:
Caroline Godfrey, Lourdes R Desviat, Bård Smedsrød, France Piétri‐Rouxel, Michela A Denti, Petra Disterer, Stéphanie Lorain, Gisela Nogales‐Gadea, Valentina Sardone, Rayan Anwar, Samir EL Andaloussi, Taavi Lehto, Bernard Khoo, Camilla Brolin, Willeke MC van Roon‐Mom, Aurélie Goyenvalle, Annemieke Aartsma‐Rus, Virginia Arechavala‐Gomeza
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 5, Pp 545-557 (2017)
Abstract The use of splice‐switching antisense therapy is highly promising, with a wealth of pre‐clinical data and numerous clinical trials ongoing. Nevertheless, its potential to treat a variety of disorders has yet to be realized. The main obst
Externí odkaz:
https://doaj.org/article/dc24c7db81c9430cadef6dc5077b7915
Publikováno v:
PLoS Genetics, Vol 14, Iss 4, p e1007360 (2018)
Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, wit
Externí odkaz:
https://doaj.org/article/d17d627fd2f7476eac78b77d9b73921e
Autor:
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0179456 (2017)
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-do
Externí odkaz:
https://doaj.org/article/089610f69b7e4e0bb028e1b279a8678b
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150357 (2016)
Proper function of endoplasmic reticulum (ER) and mitochondria is crucial for cellular homeostasis, and dysfunction at either site as well as perturbation of mitochondria-associated ER membranes (MAMs) have been linked to neurodegenerative and metabo
Externí odkaz:
https://doaj.org/article/8a606b8fb8e6413ea99c6f5d7b4e41c6
Autor:
Lorena Gallego-Villar, Hiu Man Viecelli, Belén Pérez, Cary O Harding, Magdalena Ugarte, Beat Thöny, Lourdes R Desviat
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)
We have previously demonstrated the efficacy of antisense therapy for splicing defects in cellular models of metabolic diseases, suppressing the use of cryptic splice sites or pseudoexon insertions. To date, no animal models with these defects are av
Externí odkaz:
https://doaj.org/article/e86914321096423d91d36a6977b828ab
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
Autor:
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-
Externí odkaz:
https://doaj.org/article/6bcc985f9e1040cd893521594429bcff
RNA-based therapies are a new, rapidly growing class of drugs that until a few years ago were being used mainly in research in rare diseases. However, the clinical efficacy of recently approved oligonucleotide drugs and the massive success of COVID-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85614e82ffaba7ed16d29fd96478c84a
http://hdl.handle.net/10261/280567
http://hdl.handle.net/10261/280567
