Zobrazeno 1 - 10 of 126 pro vyhledávání: '"Emperador S"'
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Akademický článek
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2
Development and characterization of cell models harbouring mtDNA deletions for i n vitro study of Pearson syndrome
Autor: Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch-Iriberri R, Montoya J, Ruiz-Pesini E, Emperador S
Publikováno v: DISEASE MODELS & MECHANISMS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b4477e8f38ddc2198dd5a0875bba5fec
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20881
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3
Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene
Autor: Hernández-Ainsa C, Nascimento-Osorio A, Jou-Munoz C, Artuch-Iriberri R, Montoya C, Ruiz-Pesini E, Emperador S
Publikováno v: STEM CELL RESEARCH
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Autosomal recessive mutations in Thymidine kinase 2 (TK2) gene cause depletion and multiple deletions in mtDNA which normally lead to fatal and progressive neuromyopathy in infants and children. We have generated an induced pluripotent stem cell (iPS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e52dec8f2f5fb4147afb02d235fef486
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20513
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4
Infectious stress triggers a POLG-related mitochondrial disease
Autor: Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero-Siles D, Garcia-Cazorla A, Artuch-Iriberri R, Montoya C, Bayona-Bafaluy MP
Publikováno v: Neurogenetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
A 3-year-old girl presented with severe epilepsy in the context of Borrelia infection. After ceftriaxone/lidocaine administration, she showed secondarily generalized focal crises that led to neurological and motor sequelae. Genetic studies identified
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4922bf8532a7df50052016941ffa66ae
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16807
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5
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome
Autor: Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero-Siles D, Fernández-Marmiesse A, O'Callaghan-Gordo M, Ortigoza-Escobar JD, Iriondo-Sanz M, Ruiz-Pesini E, Garcia-Cazorla A, Gil-Campos M, Artuch-Iriberri R, Montoya C, Bayona-Bafaluy MP
Publikováno v: Frontiers in Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the pr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::692be2da85e536e9aa064f9af74e51dd
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17275
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6
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome
Autor: Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias-Jimenez E, Meade P, Jimenez-Mallebrera C, Montoya C, Bayona-Bafaluy MP, Ruiz-Pesini E
Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Mitochondrial oxidative phosphorylation disorders are extremely heterogeneous conditions. Their clinical and genetic variability makes the identification of reliable and specific biomarkers very challenging. Until now, only a few studies have focused
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::1d97667160dac99c654f945ae8a5c1cd
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17772
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7
Acetylsalicylic Acid Exhibits Antitumor Effects in Esophageal Adenocarcinoma Cells In Vitro and In Vivo
Autor: Paula Esquivias, Angel Lanas, Maria Asuncion Garcia-Gonzalez, Carmelo Cebrián, Emperador S, Elena Piazuelo, Blanca Conde, De Martino A, Sonia Santander, Patricia Carrera-Lasfuentes
Publikováno v: Digestive Diseases and Sciences. 61:2896-2907
Recent observational studies have shown therapeutic benefits of acetylsalicylic acid (ASA) in several types of cancer. We examined whether ASA exerts antitumor activity in esophageal adenocarcinoma (EAC). Human EAC cells (OE33) were treated with ASA
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9659062abbe1bd84ff3606e7f1d5ee39
https://doi.org/10.1007/s10620-016-4225-z
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8
Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis
Autor: Catalan-Garcia, M., Garrabou, G., Moren, C., Guitart-Mampel, M., Hernando, A., Diaz-Ramos, A., Gonzalez-Casacuberta, I., Juarez, D.L., Bano, M., Enrich-Bengoa, J., Emperador, S., Milisenda, J.C., Moreno, P., Tobias, E., Zorzano, A., Montoya, J., Cardellach, F., Grau, J.M.
Publikováno v: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Sporadic inclusion body myositis (sIBM) is one of the most common myopathies in elderly people. Mitochondrial abnormalities at the histological level are present in these patients. We hypothesize that mitochondrial dysfunction may play a role in dise
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cf446abaa5219a428741541adfb0227b
http://zaguan.unizar.es/record/75641
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9
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy
Autor: Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch-Iriberri R, Roca I, Ruiz-Pesini E, Couce ML, Montoya J
Publikováno v: EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Oxidative phosphorylation dysfunction has been found in many different disorders. This biochemical pathway depends on mitochondrial protein synthesis. Thus, mutations in components of the mitochondrial translation system can be responsible for some o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dee98995e06ea5848cb7a47a3fe87e6c
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10141
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10
Ndufs4 related Leigh syndrome: A case report and review of the literature
Autor: Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B
Publikováno v: Mitochondrion
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The genetic causes of Leigh syndrome are heterogeneous, with a poor correlation between the phenotype and genotype. Here, we present a patient with an NDUFS4 mutation to expand the clinical and biochemical spectrum of the disease. A combined defect i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::00a57ededf9278e3dc85c55299ecb120
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12355
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