Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Antonio, Fontanellas"'
Autor:
Miriam Longo, Erika Paolini, Marica Meroni, Daniel Jericó, Karol M. Córdoba, Michele Battistin, Stefano Gatti, Elena Di Pierro, Antonio Fontanellas, Paola Dongiovanni
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 17, Iss 3, Pp 511-514 (2024)
Externí odkaz:
https://doaj.org/article/367cbd0a2ee74277ae4cfa046fab40bb
Autor:
Daniel Jericó, Karol M. Córdoba, Lei Jiang, Caroline Schmitt, María Morán, Ana Sampedro, Manuel Alegre, María Collantes, Eva Santamaría, Estíbaliz Alegre, Corinne Culerier, Ander Estella-Hermoso de Mendoza, Julen Oyarzabal, Miguel A. Martín, Iván Peñuelas, Matías A. Ávila, Laurent Gouya, Paolo G.V. Martini, Antonio Fontanellas
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 207-219 (2021)
Variegate porphyria (VP) results from haploinsufficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the heme synthesis pathway. There is no VP model that recapitulates the clinical manifestations of acute attacks. Combined administra
Externí odkaz:
https://doaj.org/article/f0e88f862dcd434c9fb48ea42beb448a
Autor:
Miriam Longo, Daniel Jericó, Karol M. Córdoba, José Ignacio Riezu-Boj, Raquel Urtasun, Isabel Solares, Ana Sampedro, María Collantes, Ivan Peñuelas, María Jesús Moreno-Aliaga, Matías A. Ávila, Elena Di Pierro, Miguel Barajas, Fermín I. Milagro, Paola Dongiovanni, Antonio Fontanellas
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 15, p 11938 (2023)
Acute intermittent porphyria (AIP) is a metabolic disorder caused by mutations in the porphobilinogen deaminase (PBGD) gene, encoding the third enzyme of the heme synthesis pathway. Although AIP is characterized by low clinical penetrance (~1% of PBG
Externí odkaz:
https://doaj.org/article/4f05cfbbec6f45b288b2bf102e5b5aba
Autor:
Isabel Solares, Daniel Jericó, Karol M. Córdoba, Montserrat Morales-Conejo, Javier Ena, Rafael Enríquez de Salamanca, Antonio Fontanellas
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 1, p 51 (2022)
Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, δ-aminolevulinic acid (ALA) and
Externí odkaz:
https://doaj.org/article/2113cb2bb1924aec82362266dc98898c
Autor:
Daniel Jericó, Karol M. Córdoba, Ana Sampedro, Lei Jiang, Gilles Joucla, Charlotte Cabanne, José Luis Lanciego, Paolo G. V. Martini, Pedro Berraondo, Matías A. Ávila, Antonio Fontanellas
Publikováno v:
Life, Vol 12, Iss 11, p 1858 (2022)
Rare diseases, especially monogenic diseases, which usually affect a single target protein, have attracted growing interest in drug research by encouraging pharmaceutical companies to design and develop therapeutic products to be tested in the clinic
Externí odkaz:
https://doaj.org/article/e85dc083829242d0a9443dcdb8a9237a
Autor:
Sheila Maestro, Karol M. Córdoba, Cristina Olague, Josepmaria Argemi, Matías A. Ávila, Gloria González-Aseguinolaza, Cristian Smerdou, Antonio Fontanellas
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 137, Iss , Pp 111384- (2021)
Antiviral agents with different mechanisms of action could induce synergistic effects against SARS-CoV-2 infection. Some reports suggest the therapeutic potential of the heme oxygenase-1 (HO-1) enzyme against virus infection. Given that hemin is a na
Externí odkaz:
https://doaj.org/article/06c7ce1a5c244222b6eb2ffd0ababdb7
Autor:
Isabel Solares, Carlos Heredia-Mena, Francisco Javier Castelbón, Daniel Jericó, Karol Marcela Córdoba, Antonio Fontanellas, Rafael Enríquez de Salamanca, Montserrat Morales-Conejo
Publikováno v:
Diagnostics, Vol 11, Iss 11, p 2148 (2021)
Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given
Externí odkaz:
https://doaj.org/article/385d25f289b04ec9b712b3913c9333c9
Autor:
Isabel Solares, Laura Izquierdo-Sánchez, Montserrat Morales-Conejo, Daniel Jericó, Francisco Javier Castelbón, Karol Marcela Córdoba, Ana Sampedro, Carlos Lumbreras, María Jesús Moreno-Aliaga, Rafael Enríquez de Salamanca, Pedro Berraondo, Antonio Fontanellas
Publikováno v:
Biomedicines, Vol 9, Iss 3, p 255 (2021)
Acute porphyria attacks are associated with the strong up-regulation of hepatic heme synthesis and over-production of neurotoxic heme precursors. First-line therapy is based on carbohydrate loading. However, altered glucose homeostasis could affect i
Externí odkaz:
https://doaj.org/article/3aab24dd2c714a818c80a752618c7a6b
Autor:
Antonio Fontanellas, Matías A. Avila
Publikováno v:
Journal of Hepatology. 77:912-914
Autor:
Diego Vera‐Yunca, Karol M. Córdoba, Zinnia P. Parra‐Guillen, Daniel Jericó, Antonio Fontanellas, Iñaki F. Trocóniz
Publikováno v:
British Journal of Pharmacology. 179:3815-3830
Acute intermittent porphyria (AIP) is a rare disease caused by a genetic mutation in the hepatic activity of the porphobilinogen-deaminase. We aimed to develop a mechanistic model of the enzymatic restoration effects of a novel therapy based on the a