Zobrazeno 1 - 10
of 374
pro vyhledávání: '"Rafael Artuch"'
Autor:
Josep Rullo-Tubau, Maria Martinez-Molledo, Paola Bartoccioni, Ignasi Puch-Giner, Ángela Arias, Suwipa Saen-Oon, Camille Stephan-Otto Attolini, Rafael Artuch, Lucía Díaz, Víctor Guallar, Ekaitz Errasti-Murugarren, Manuel Palacín, Oscar Llorca
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Recent cryoEM studies elucidated details of the structural basis for the substrate selectivity and translocation of heteromeric amino acid transporters. However, Asc1/CD98hc is the only neutral heteromeric amino acid transporter that can fun
Externí odkaz:
https://doaj.org/article/303465180c3d4a2ba1178ad277af7a3c
Autor:
Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that
Externí odkaz:
https://doaj.org/article/6e3b9de78c4e4071ad94d231642e4ed6
Autor:
Maja R. Adel, Ester Antón-Galindo, Edurne Gago-Garcia, Angela Arias-Dimas, Concepció Arenas, Rafael Artuch, Bru Cormand, Noèlia Fernàndez-Castillo
Publikováno v:
Pharmaceuticals, Vol 17, Iss 2, p 254 (2024)
RBFOX1 functions as a master regulator of thousands of genes, exerting a pleiotropic effect on numerous neurodevelopmental and psychiatric disorders. A potential mechanism by which RBFOX1 may impact these disorders is through its modulation of seroto
Externí odkaz:
https://doaj.org/article/cb4d22516fbd46329f97b3ec84072410
Autor:
Judith Cantó‐Santos, Laura Valls‐Roca, Ester Tobías, Francesc Josep García‐García, Mariona Guitart‐Mampel, Anna Esteve‐Codina, Beatriz Martín‐Mur, Mercedes Casado, Rafael Artuch, Estel Solsona‐Vilarrasa, José Carlos Fernandez‐Checa, Carmen García‐Ruiz, Carles Rentero, Carlos Enrich, Pedro J. Moreno‐Lozano, José César Milisenda, Francesc Cardellach, Josep M. Grau‐Junyent, Glòria Garrabou
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 2, Pp 964-977 (2023)
Abstract Background Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology. There is
Externí odkaz:
https://doaj.org/article/0f82886d569447a682acbe705f05bfcc
Autor:
Clara Mayayo-Vallverdú, Miguel López de Heredia, Esther Prat, Laura González, Meritxell Espino Guarch, Clara Vilches, Lourdes Muñoz, Miguel A. Asensi, Carmen Serra, Amadeu Llebaria, Mercedes Casado, Rafael Artuch, Gloria Garrabou, Pablo M. Garcia-Roves, Federico V. Pallardó, Virginia Nunes
Publikováno v:
Redox Biology, Vol 64, Iss , Pp 102801- (2023)
The high recurrence rate of cystine lithiasis observed in cystinuria patients highlights the need for new therapeutic options to address this chronic disease. There is growing evidence of an antioxidant defect in cystinuria, which has led to test ant
Externí odkaz:
https://doaj.org/article/af072a2d640d476fa7f993ce82b38f63
Autor:
Clara Mayayo-Vallverdú, Esther Prat, Marta Vecino-Pérez, Laura González, Silvia Gràcia-Garcia, Luz San Miguel, Noelia Lopera, Angela Arias, Rafael Artuch, Miguel López de Heredia, Carlos Torrecilla, Ferran Rousaud-Barón, Oriol Angerri, Ekaitz Errasti-Murugarren, Virginia Nunes
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 24, p 17140 (2023)
More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggest
Externí odkaz:
https://doaj.org/article/b47f336ca4484d1d9c4d9ed53154c5bd
Autor:
Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)
Abstract Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early‐onset Parkinsonism. Affected children present with either a severe form that does not respond to L‐Dopa treatment (THD‐B) or a
Externí odkaz:
https://doaj.org/article/e22ef144c32047569cfc1dd967018c9c
Autor:
Judith Cantó-Santos, Laura Valls-Roca, Ester Tobías, Clara Oliva, Francesc Josep García-García, Mariona Guitart-Mampel, Félix Andújar-Sánchez, Anna Esteve-Codina, Beatriz Martín-Mur, Joan Padrosa, Raquel Aránega, Pedro J. Moreno-Lozano, José César Milisenda, Rafael Artuch, Josep M. Grau-Junyent, Glòria Garrabou
Publikováno v:
Antioxidants, Vol 12, Iss 8, p 1639 (2023)
Inclusion body myositis (IBM) is an acquired inflammatory myopathy affecting proximal and distal muscles that leads to weakness in patients over 50. It is diagnosed based on clinical and histological findings in muscle related to inflammation, degene
Externí odkaz:
https://doaj.org/article/0544446c413446e08d5fb26deb02142b
Autor:
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/f7fdb958d90148a694eda2e93c480bad
Autor:
Amira Ben Afia, Èlia Vila, Karina S. MacDowell, Aida Ormazabal, Juan C. Leza, Josep M. Haro, Rafael Artuch, Belén Ramos, Borja Garcia-Bueno
Publikováno v:
Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-15 (2021)
Abstract Background The cortico-cerebellar-thalamic-cortical circuit has been implicated in the emergence of psychotic symptoms in schizophrenia (SZ). The kynurenine pathway (KP) has been linked to alterations in glutamatergic and monoaminergic neuro
Externí odkaz:
https://doaj.org/article/491fb01ef73e45218632fd2f13c89631