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15 results on '"Matas‐Garcia, Ana"'

1. Coordinated local RNA overexpression of complement induced by interferon gamma in myositis

Author

Casal-Dominguez, Maria, Pinal-Fernandez, Iago, Pak, Katherine, Muñoz-Braceras, Sandra, Milisenda, Jose C., Torres-Ruiz, Jiram, Dell′Orso, Stefania, Naz, Faiza, Gutierrez-Cruz, Gustavo, Duque-Jaimez, Yaiza, Matas-Garcia, Ana, Valls-Roca, Laura, Garrabou, Gloria, Trallero-Araguas, Ernesto, Walitt, Brian, Christopher-Stine, Lisa, Lloyd, Thomas E., Paik, Julie J., Albayda, Jemima, Corse, Andrea, Grau, Josep Maria, Selva-O’Callaghan, Albert, and Mammen, Andrew L.

Published
2023
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2. Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study

Author

Aldecoa, Iban, Barcelo, Maria Ines, Canneti, Beatrice, Cedres, Susana, Chavarria, Alba, Fabregat-Franco, Carles, Ferrer-Civeira, Maria, Frutos-Alegria, Maria Teresa, Guasp, Mar, Landete, Lamberto, Llufriu, Sara, Marti, Maria Teresa, Martinez-Rodriguez, Jose Enrique, Matas-Garcia, Ana, Moreno-Pulido, Silvia, Pelayo-Negro, Ana Lara, Reig, Maria, Riancho, Javier, Sánchez-Vizcaíno, Cristina, Sanduzzi-Zamparelli, Marco, Sepulveda, Maria, Silvarrey-Rodriguez, Saul, Tagliani, Paula, Fonseca, Elianet, Cabrera-Maqueda, Jose M, Ruiz-García, Raquel, Naranjo, Laura, Diaz-Pedroche, Carmen, Velasco, Roser, Macias-Gómez, Adrià, Milisenda, Jose C, Muñoz-Farjas, Elena, Pascual-Goñi, Elba, Gállego Perez-Larraya, Jaime, Saiz, Albert, Dalmau, Josep, Blanco, Yolanda, Graus, Francesc, and Martinez-Hernandez, Eugenia

Published
2023
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3. Dermatomyositis unleashed by immune checkpoint inhibitors. Three additional cases and a review of the literature

Author

Guerra, Néstor López, Matas-García, Ana, Serra-García, Laura, Morgado-Carrasco, Daniel, Padrosa, Joan, Aldecoa, Iban, Duque, Yaiza, Casal-Dominguez, Maria, Muñoz-Braceras, Sandra, Aranega, Raquel, Moreno-Lozano, Pedro, Cantó-Santos, Judith, Garrabou, Glòria, Ruiz-Ortiz, Estíbaliz, Trallero-Araguas, Ernesto, Selva-O'Callaghan, Albert, Grau, Josep M., Puig, Susana, Torres-Ruiz, Jiram, Mammen, Andrew L., Fernandez, Iago Pinal, and Milisenda, José C.

Published
2023
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4. Pathogenic autoantibody internalization in myositis

Author

Pinal-Fernandez, Iago, primary, Munoz-Braceras, Sandra, additional, Casal-Dominguez, Maria, additional, Pak, Katherine, additional, Torres-Ruiz, Jiram, additional, Musai, Jon, additional, Dell'Orso, Stefania, additional, Naz, Faiza, additional, Islam, Shamima, additional, Gutierrez-Cruz, Gustavo, additional, Dolores Cano, Maria, additional, Matas-Garcia, Ana, additional, Padrosa, Joan, additional, Tobias-Baraja, Esther, additional, Garrabou, Gloria, additional, Aldecoa, Iban, additional, Espinosa, Gerard, additional, Simeon-Aznar, Carmen P, additional, Guillen-Del-Castillo, Alfredo, additional, Gil-Vila, Albert, additional, Trallero-Araguas, Ernesto, additional, Christopher-Stine, Lisa, additional, Lloyd, Thomas E, additional, Liewluck, Teerin, additional, Naddaf, Elie, additional, Stenzel, Werner, additional, Greenberg, Steven A, additional, Maria Grau, Josep, additional, Selva-O'Callaghan, Albert, additional, Milisenda, Jose C, additional, and Mammen, Andrew L, additional

Published
2024
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5. Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study

Author

Fonseca, Elianet, primary, Cabrera-Maqueda, Jose M, additional, Ruiz-García, Raquel, additional, Naranjo, Laura, additional, Diaz-Pedroche, Carmen, additional, Velasco, Roser, additional, Macias-Gómez, Adrià, additional, Milisenda, Jose C, additional, Muñoz-Farjas, Elena, additional, Pascual-Goñi, Elba, additional, Perez-Larraya, Jaime Gállego, additional, Saiz, Albert, additional, Dalmau, Josep, additional, Blanco, Yolanda, additional, Graus, Francesc, additional, Martinez-Hernandez, Eugenia, additional, Aldecoa, Iban, additional, Barcelo, Maria Ines, additional, Canneti, Beatrice, additional, Cedres, Susana, additional, Chavarria, Alba, additional, Fabregat-Franco, Carles, additional, Ferrer-Civeira, Maria, additional, Frutos-Alegria, Maria Teresa, additional, Guasp, Mar, additional, Landete, Lamberto, additional, Llufriu, Sara, additional, Marti, Maria Teresa, additional, Martinez-Rodriguez, Jose Enrique, additional, Matas-Garcia, Ana, additional, Moreno-Pulido, Silvia, additional, Pelayo-Negro, Ana Lara, additional, Reig, Maria, additional, Riancho, Javier, additional, Sánchez-Vizcaíno, Cristina, additional, Sanduzzi-Zamparelli, Marco, additional, Sepulveda, Maria, additional, Silvarrey-Rodriguez, Saul, additional, and Tagliani, Paula, additional

Published
2023
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6. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

Author

Stanescu, Sinziana, primary, Correcher Medina, Patricia, additional, del Castillo, Francisco J., additional, Alonso Luengo, Olga, additional, Arto Millan, Luis Maria, additional, Belanger Quintana, Amaya, additional, Camprodon Gomez, Maria, additional, Diez Langhetée, Lydia, additional, Garcia Campos, Oscar, additional, Matas Garcia, Ana, additional, Perez-Moreno, Jimena, additional, Rubio Gribble, Barbara, additional, Visa-Reñé, Nuria, additional, Giraldo-Castellano, Pilar, additional, and O’Callaghan Gordo, Mar, additional

Published
2023
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7. Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies

Author

Pinal-Fernandez, Iago, primary, Milisenda, Jose Cesar, additional, Pak, Katherine, additional, Muñoz-Braceras, Sandra, additional, Casal-Dominguez, Maria, additional, Torres-Ruiz, Jiram, additional, Dell'Orso, Stefania, additional, Naz, Faiza, additional, Gutierrez-Cruz, Gustavo, additional, Duque-Jaimez, Yaiza, additional, Matas-Garcia, Ana, additional, Padrosa, Joan, additional, Garcia-Garcia, Francesc J, additional, Guitart-Mampel, Mariona, additional, Garrabou, Gloria, additional, Trallero-Araguás, Ernesto, additional, Walitt, Brian, additional, Paik, Julie J, additional, Albayda, Jemima, additional, Christopher-Stine, Lisa, additional, Lloyd, Thomas E, additional, Grau-Junyent, Josep Maria, additional, Selva-O'Callaghan, Albert, additional, and Mammen, Andrew Lee, additional

Published
2023
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8. Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis

Author

Pinal-Fernandez, Iago, primary, Quintana, Angela, additional, Milisenda, Jose Cesar, additional, Casal-Dominguez, Maria, additional, Muñoz-Braceras, Sandra, additional, Derfoul, Assia, additional, Torres-Ruiz, Jiram, additional, Pak, Katherine, additional, Dell'Orso, Stefania, additional, Naz, Faiza, additional, Gutierrez-Cruz, Gustavo, additional, Milone, Margherita, additional, Shelly, Shahar, additional, Duque-Jaimez, Yaiza, additional, Tobias-Baraja, Ester, additional, Matas-Garcia, Ana, additional, Garrabou, Gloria, additional, Padrosa, Joan, additional, Ros, Javier, additional, Trallero-Araguás, Ernesto, additional, Walitt, Brian, additional, Christopher-Stine, Lisa, additional, Lloyd, Thomas E, additional, Zhao, Chen, additional, Swift, Shannon, additional, Rajan, Arun, additional, Grau-Junyent, Josep Maria, additional, Selva-O'Callaghan, Albert, additional, Liewluck, Teerin, additional, and Mammen, Andrew Lee, additional

Published
2023
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9. Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor-induced myositis

Author

Pinal-Fernandez, Iago, primary, Quintana, Angela, additional, Milisenda, Jose C., additional, Casal-Dominguez, Maria, additional, Muñoz-Braceras, Sandra, additional, Derfoul, Assia, additional, Torres-Ruiz, Jiram, additional, Pak, Katherine, additional, Del Orso, Stefania, additional, Naz, Faiza, additional, Gutierrez-Cruz, Gustavo, additional, Milone, Margherita, additional, Shelly, Shahar, additional, Duque-Jaimez, Yaiza, additional, Tobias-Baraja, Ester, additional, Matas-Garcia, Ana, additional, Garrabou, Gloria, additional, Padrosa, Joan, additional, Ros, Javier, additional, Trallero-Araguás, Ernesto, additional, Walitt, Brian, additional, Christopher-Stine, Lisa, additional, Lloyd, Thomas E., additional, Zhao, Chen, additional, Swift, Shannon, additional, Rajan, Arun, additional, Grau, Josep Maria, additional, Selva-O’Callaghan, Albert, additional, Liewluck, Teerin, additional, and Mammen, Andrew L., additional

Published
2022
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10. Gastrointestinal Involvement in Dermatomyositis

Author

Matas-Garcia, Ana, primary, Milisenda, José C., additional, Espinosa, Gerard, additional, Cuatrecasas, Míriam, additional, Selva-O’Callaghan, Albert, additional, Grau, Josep María, additional, and Prieto-González, Sergio, additional

Published
2022
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11. Dermatomyositis Triggered by Immune Checkpoint Inhibitors. Three Additional Cases and a Review of the Literature

Author

López-Guerra, Néstor, primary, Matas-Garcia, Ana, additional, Serra-García, Laura, additional, Morgado-Carrasco, Daniel, additional, Padrosa, Joan, additional, Aldecoa, Iban, additional, Duque, Yaiza, additional, Aranega, Raquel, additional, Moreno-Lozano, Pedro, additional, Cantó-Santos, Judith, additional, Garrabou, Glòria, additional, Ruiz-Ortiz, Estíbaliz, additional, Trallero-Araguas, Ernesto, additional, Selva-O'Callaghan, Albert, additional, Grau, Josep M., additional, Puig, Susana, additional, Torres-Ruiz, Jiram, additional, Fernandez, Iago Pinal, additional, and Milisenda, José César, additional

Published
2022
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14. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Author

Hidalgo‐Gutierrez, Agustin, Shintaku, Jonathan, Ramon, Javier, Barriocanal‐Casado, Eliana, Pesini, Alba, Saneto, Russell P., Garrabou, Gloria, Milisenda, Jose Cesar, Matas‐Garcia, Ana, Gort, Laura, Ugarteburu, Olatz, Gu, Yue, Koganti, Lahari, Wang, Tian, Tadesse, Saba, Meneri, Megi, Sciacco, Monica, Wang, Shuang, Tanji, Kurenai, and Horwitz, Marshall S.

Subjects
*MITOCHONDRIAL DNA, *CYTOCHROME oxidase, *PHOSPHATASE inhibitors, *GENETIC variation, *DEOXYGUANOSINE
Abstract

Objective Methods Results Interpretation Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in 4 patients who lack pathogenic variants in known genetic causes.Whole exome sequencing of the probands was performed to identify pathogenic variants. We validated the mitochondrial defect by analyzing mtDNA, mitochondrial dNTP pools, respiratory chain activities, and GUK1 activity. To confirm pathogenicity of GUK1 deficiency, we expressed 2 GUK1 isoforms in patient cells.We identified biallelic GUK1 pathogenic variants in all 4 probands who presented with ptosis, ophthalmoparesis, and myopathic proximal limb weakness, as well as variable hepatopathy and altered T‐lymphocyte profiles. Muscle biopsies from all probands showed mtDNA depletion, deletions, or both, as well as reduced activities of mitochondrial respiratory chain enzymes. GUK1 encodes guanylate kinase, originally identified as a cytosolic enzyme. Long and short isoforms of GUK1 exist. We observed that the long isoform is intramitochondrial and the short is cytosolic. In probands’ fibroblasts, we noted decreased GUK1 activity causing unbalanced mitochondrial dNTP pools and mtDNA depletion in both replicating and quiescent fibroblasts indicating that GUK1 deficiency impairs de novo and salvage nucleotide pathways. Proband fibroblasts treated with deoxyguanosine and/or forodesine, a purine phosphatase inhibitor, ameliorated mtDNA depletion, indicating potential pharmacological therapies.Primary GUK1 deficiency is a new and potentially treatable cause of MDDS. The cytosolic isoform of GUK1 may contribute to the T‐lymphocyte abnormality, which has not been observed in other MDDS disorders. ANN NEUROL 2024 [ABSTRACT FROM AUTHOR]

Published
2024
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15. Pathological autoantibody internalisation in myositis.

Author

Pinal-Fernandez I, Muñoz-Braceras S, Casal-Dominguez M, Pak K, Torres-Ruiz J, Musai J, Dell'Orso S, Naz F, Islam S, Gutierrez-Cruz G, Cano MD, Matas-Garcia A, Padrosa J, Tobias-Baraja E, Garrabou G, Aldecoa I, Espinosa G, Simeon-Aznar CP, Guillen-Del-Castillo A, Gil-Vila A, Trallero-Araguás E, Christopher-Stine L, Lloyd TE, Liewluck T, Naddaf E, Stenzel W, Greenberg SA, Grau JM, Selva-O'Callaghan A, Milisenda JC, and Mammen AL

Abstract

Objectives: Autoantibodies targeting intracellular proteins are common in various autoimmune diseases. In the context of myositis, the pathologic significance of these autoantibodies has been questioned due to the assumption that autoantibodies cannot enter living muscle cells. This study aims to investigate the validity of this assumption., Methods: Confocal immunofluorescence microscopy was employed to localise antibodies and other proteins of interest in myositis muscle biopsies. Bulk RNA sequencing was used to examine the transcriptomic profiles of 669 samples, including those from patients with myositis, disease controls and healthy controls. Additionally, antibodies from myositis patients were introduced into cultured myoblasts through electroporation, and their transcriptomic profiles were analysed using RNA sequencing., Results: In patients with myositis autoantibodies, antibodies accumulated inside myofibres in the same subcellular compartment as the autoantigen. Bulk RNA sequencing revealed that muscle biopsies from patients with autoantibodies targeting transcriptional regulators exhibited transcriptomic patterns consistent with dysfunction of the autoantigen. For instance, in muscle biopsies from patients with anti-PM/Scl autoantibodies recognising components of the nuclear RNA exosome complex, an accumulation of divergent transcripts and long non-coding RNAs was observed; these RNA forms are typically degraded by the nuclear RNA exosome complex. Introducing patient antibodies into cultured muscle cells recapitulated the transcriptomic effects observed in human disease. Further supporting evidence suggested that myositis autoantibodies recognising other autoantigens may also disrupt the function of their targets., Conclusions: This study demonstrates that, in myositis, autoantibodies are internalised into living cells, causing biological effects consistent with the disrupted function of their autoantigen., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ on behalf of EULAR.)

Published
2024
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