Zobrazeno 1 - 10 of 178 pro vyhledávání: '"Artuch Iriberri, R."'
1
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Autor: Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network, Lapunzina P
Publikováno v: CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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CIBER (Center for Biomedical Network Research; Centro de Investigacion Biomedica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research stru
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::4b10b8486ea59fb51a54ee16d2bf73b8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20655
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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
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Autor: Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R, Pérez-Dueñas B
Publikováno v: CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work descri
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6e22da944f17137f9fd604b39dd4c69f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21389
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4
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
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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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6
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Autor: Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S
Publikováno v: JOURNAL OF MOLECULAR DIAGNOSTICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b82d9f5bc93ceb2efce0bc9debf9ab42
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21508
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7
Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition
Autor: Esparza-Moltó PB, Romero-Carramiñana I, Núñez de Arenas C, Pereira MP, Blanco N, Pardo B, Bates GR, Sánchez-Castillo C, Artuch-Iriberri R, Murphy MP, Esteban JA, Cuezva JM
Publikováno v: Plos Biology
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
The mitochondrial ATP synthase emerges as key hub of cellular functions controlling the production of ATP, cellular signaling, and fate. It is regulated by the ATPase inhibitory factor 1 (IF1), which is highly abundant in neurons. Herein, we ablated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::50d8658ebd9bc37da9db4f4d07ab260b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19602
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9
CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina
Autor: Mirra S, Arroyo RG, Domènech EB, Gavalda A, Herrera-Úbeda C, Oliva C, Garcia-Fernàndez J, Artuch-Iriberri R, Villarroya F, Marfany G
Publikováno v: NEUROBIOLOGY OF DISEASE
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
The retina is a highly active metabolic organ that displays a particular vulnerability to genetic and environmental factors causing stress and homeostatic imbalance. Mitochondria constitute a bioenergetic hub that coordinates stress response and cell
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::696149774cc3399e38d399f28b708918
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19644
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10
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
Autor: Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J, Artuch-Iriberri R
Publikováno v: GENES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain a global estimate of the numb
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::90a0984ad5008e2df706df4d30a08daa
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20226
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