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Investigación
Patología mitocondrial y ELA (PMIT/ELA)
Líneas de investigación
Contenidos con Investigacion .
Patología Mitocondrial y ELA
- Estudios sobre el metabolismo energético, función mitocondrial, dinámica mitocondrial y estrés oxidativo en modelos celulares de neurodegeneración, tanto en patologías mitocondriales como Esclerosis Lateral Amiotrófica (ELA) y otras enfermedades neurodegenerativas.
- Análisis de datos genómicos en pacientes con ELA, con propósitos diagnósticos y de descubrimiento de nuevos genes causativos de la enfermedad, dentro del Consorcio Internacional MinE. Estudio de asociaciones génicas e interacciones proteicas mediante distintas herramientas bioinformáticas.
Proyectos de investigación
Contenidos con Investigacion .
- Análisis de los genomas de pacientes con ELA y estudio de nuevas variantes en la línea celular de motoneurona NSC-34. FUNDACION HNA. 01/06/2022-31/12/2024.
- Proyecto MinE:caracterización y validación de variantes detectadas en los genomas de pacientes con ELA. FUNDELA. 01/03/2021-01/09/2022. ELA base: una cohorte para un estudio longitudinal de medicina de precisión en la esclerosis lateral amiotrófica. Instituto de Salud Carlos III. 17/05/2019-17/05/2020.
- Proyecto MinE: del análisis biocomputacional de genomas de pacientes con esclerosis lateral amiotrófica al desarrollo de un modelo de motoneurona diferenciada a partir de células madre pluripontes inducidas obtenidas de cultivos de fibroblastos humanos de origen dérmico. FUNDELA. 12/12/2018-12/12/2019.
- Estudio de los factores implicados en la regulación de los transportadores de glucosa y ácido dehidroascórbico en el modelo celular de ELA NSC-34 (SOD1G93A). FUNDELA. 03/03/2017-02/03/2018.
- Papel de la autofagia y su modulación en fibroblastos de pacientes con Esclerosis Lateral Amiotrófica (ELA) y en el modelo celular NSC-34 en un contexto de normo o hiperglucemia. Fondo de Investigaciones Sanitarias (FIS). 01/01/2013-31-12-2015.
Publicaciones destacadas
Efficient generation of human cerebral organoids directly from adherent cultures of pluripotent stem cels. Journal of Tissue Engineering.
Rosa González; Raquel Coronel; Adela Bernabeu; Patricia Mateos; Andreea Rosca; Victoria López*; Isabel Liste. 2024. Efficient generation of human cerebral organoids directly from adherent cultures of pluripotent stem cels. Journal of Tissue Engineering. SAGE. 15, pp.1-14. D1
The CSN3 subunit of the COP9 signalosome interacts with the HD region of Sos1 regulating stability of this GEF protein
Zarich N, Anta B, Fernández-Medarde A, Ballester A, de Lucas MP, Cámara AB, Anta B, Oliva JL, Rojas-Cabañeros JM and Santos E. The CSN3 subunit of the COP9 signalosome interacts with the HD region of Sos1 regulating stability of this GEF protein. Oncogenesis (2019) 8:2. DOI: 10.1038/s41389-018-0111-1
DOINeurotoxicity and endocrine disruption caused by polystyrene nanoparticles in zebrafish embryo
Torres-Ruiz M, de Alba-Gonzalez M, Morales M, Martin-Folgar R, Gonzalez MC, Cañas-Portilla AI* and De la Vieja A*. Neurotoxicity and endocrine disruption caused by polystyrene nanoparticles in zebrafish embryo. Science of the Total Environment 2023 874:162406. doi: 10.1016/j.scitotenv.2023.162406. PMID: 36841402.
PUBMED DOINon-invasive biomarkers for mild cognitive impairment and Alzheimer's disease. Neurobiol Dis
Botello-Marabotto M, Martínez-Bisbal MC, Calero M, Bernardos A, Pastor AB, Medina M, Martínez-Máñez R. Non-invasive biomarkers for mild cognitive impairment and Alzheimer's disease. Neurobiol Dis. 2023 doi: 10.1016/j.nbd.2023.106312.
DOISeroreactivity Against Tyrosine Phosphatase PTPRN Links Type 2 Diabetes and Colorectal Cancer and Identifies a Potential Diagnostic and Therapeutic Target
Garranzo-Asensio M, Solís-Fernández G, Montero-Calle A, García-Martínez JM, Fiuza MC, Pallares P, Palacios-Garcia N, García-Jiménez C, Guzman-Aranguez A, Barderas R. Seroreactivity Against Tyrosine Phosphatase PTPRN Links Type 2 Diabetes and Colorectal Cancer and Identifies a Potential Diagnostic and Therapeutic Target. Diabetes 2022;71(3):497–510
DOIBronchoalveolar lavage cytokine profile in patients with Pulmonary Langerhans Cell Histiocytosis differs from other interstitial lung diseases Eur
Castillo Villegas D; Barril Farre S; Millan Billi P; Sibila Vidal O; Luque A; Acebo P; Hortelano S. 2020. Bronchoalveolar lavage cytokine profile in patients with Pulmonary Langerhans Cell Histiocytosis differs from other interstitial lung diseases Eur. Respir. J. 2020; 56: Suppl. 64, 5253. https://doi.org/10.1183/13993003.congress-2020.5253
DOIEpigenetic Inactivation of the ERK inhibitor Spry2 in B-Cell Diffuse Lymphomas
Sánchez A, Setién F, Martínez N, Oliva JL, Herranz M, Fraga MF, Alaminos M, Esteller M & Rojas JM. Epigenetic Inactivation of the ERK inhibitor Spry2 in B-Cell Diffuse Lymphomas. Oncogene. 2008; 27: 4969- 72. doi:10.1038/onc.2008.129
DOIEffects of Hypocalcemic Vitamin D Analogs in the Expression of DNA Damage Induced in Minilungs from hESCs: Implications for Lung Fibrosis
Effects of Hypocalcemic Vitamin D Analogs in the Expression of DNA Damage Induced in Minilungs from hESCs: Implications for Lung Fibrosis. Magro-Lopez E, Chamorro-Herrero I, Zambrano A. Int J Mol Sci. 2022 Apr 28;23(9):4921. doi: 10.3390/ijms23094921. PMID: 35563311; PMCID: PMC9104735.
PUBMED DOIBackground levels and brain organoid impact of RF field exposure in a healthcare environment
Hernández, J.A.; Rosca, A.; Suárez, S.; Coronel, R.; Suarez, O.J.; Peran-Ramos, P.; Marina, P.; Rabassa, L.E.; Mateos, P.; Liste, I.; López-Alonso, V.; Torres-Ruiz, M.; Febles, V.M.; Ramos V. (2024). Background levels and brain organoid impact of RF field exposure in a healthcare environment. Front Antennas Propag. 2, 1357649. doi: 10.3389/fanpr.2024.1357649.
DOIEGFR amplification and EGFRvIII predict and participate in TAT-Cx43266-283 antitumor response in preclinical glioblastoma models
Álvarez-Vázquez A, San-Segundo L, Cerveró-García P, Flores-Hernández R, Ollauri-Ibáñez C, Segura-Collar B, Hubert CG, Morrison G, Pollard SM, Lathia JD, Sánchez-Gómez P, Tabernero A. (2024) EGFR amplification and EGFRvIII predict and participate in TAT-Cx43266-283 antitumor response in preclinical glioblastoma models. Neuro Oncol. Mar 20:noae060. PMID: 38507464doi: 10.1093/neuonc/noae060
DOIAssociation of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Gijs HP Tazelaar, Annelot M Dekker, Joke JFA van Vugt, Rick AA van der Spek, Henk-Jan Westeneng, Lindy Kool, et al. on behalf of the Project MinE ALS Sequencing Consortium. Neurobiology of aging. 2019;74:9-15. DOI: 10.1016/j.neurobiolaging.2018.09.012
DOIEditorial: IL-2/IL-2R axis modulation by mesenchymal stromal cells: interaction with immunosuppressive drugs?
Ballester S and Ballester A. Editorial: IL-2/IL-2R axis modulation by mesenchymal stromal cells: interaction with immunosuppressive drugs? Journal of Leukocyte Biology (2017) 101-3, pp.617-619. ISSN 1938-3673, (editorial by invitation) doi:10.1189/jlb.5CE0916-393R
PUBMED DOIEfficient generation of human cerebral organoids directly from adherent cultures of pluripotent stem cells
González-Sastre, R.; Coronel, R.; Bernabeu-Zornoza, A.; Mateos-Martínez, P.; Rosca, A.; López-Alonso, V.; Liste, I. (2024). Efficient generation of human cerebral organoids directly from adherent cultures of pluripotent stem cells. J Tissue Eng. 15, 20417314231226027. doi: 10.1177/20417314231226027
DOINew approach methods to improve human health risk assessment of thyroid hormone system disruption – a PARC project
Ramhøj L, Axelstad M, Baert Y, Cañas-Portilla AI, Chalmel F, Marchandise L, De La Vieja A, Evrard B, Haigis AC, Hamers T, Holbech H, Iglesias-Hernandez P, Knapen D, Morthorst JE, Nikolov NG, Nissen ACV, Oelgeschlaeger M, Renko K, Rogiers V, Schüürmann G, Stinckens E, Houmark M, Torres-Ruiz M, van Duursen M, Vanhaecke T, Vergauwen L, Wedebye EB, Svingen T*. New approach methods to improve human health risk assessment of thyroid hormone system disruption – a PARC project. Frontiers in Toxicology. 2023, 5:1189303. doi: 10.3389/ftox.2023.1189303. PMID: 37265663
PUBMED DOITNAP and P2X7R: New Plasma Biomarkers for Alzheimer's Disease
Aivar P, Bianchi C, Di Lauro C, Soria-Tobar L, Alvarez-Castelao B, Calero M, Medina M, Diaz-Hernandez M. TNAP and P2X7R: New Plasma Biomarkers for Alzheimer's Disease. Int J Mol Sci. 2023 24(13):10897. doi: 10.3390/ijms241310897.
DOIEffects of 700 and 3500 MHz 5G radiofrequency exposure on developing zebrafish embryos
Torres-Ruiz M, Suárez OJ, López V, Marina P, Sanchis A, Liste I, de Alba M, Ramos V. Effects of 700 and 3500 MHz 5G radiofrequency exposure on developing zebrafish embryos. Sci Total Environ. 2024 Jan 8:169475. D1.
Towards Control and Oversight of SARS-CoV-2 Diagnosis and Monitoring through Multiplexed Quantitative Electroanalytical Immune Response Biosensors
Torrente-Rodríguez RM, Montero-Calle A, San Bartolomé C, Cano O, Vázquez M, Iglesias-Caballero M, Corral-Lugo A, McConnell MJ, Pascal M, Mas V, Pingarrón JM, Barderas R, Campuzano S. Towards Control and Oversight of SARS-CoV-2 Diagnosis and Monitoring through Multiplexed Quantitative Electroanalytical Immune Response Biosensors. Angewandte Chemie 2022; 61:e202203662
DOIalpha-hispanolol induces apoptosis and suppresses migration and invasion of glioblastoma cells likely via downregulation of MMP-2/9 expression
Sánchez-Martín V; Jiménez-García L; Herranz S; Luque A; Acebo P; de las Heras B; Hortelano S. 2019. alpha-hispanolol induces apoptosis and suppresses migration and invasion of glioblastoma cells likely via downregulation of MMP-2/9 expression. Front Pharmacol. 2019 Sep 3;10:935. https://doi.org/10.3389/fphar.2019.00935.
DOICell density-dependent inhibition of epidermal growth factor receptor signaling by p38alpha mitogen- activated protein kinase via Sprouty2 downregulation
Swat A, Dolado I, Rojas JM & Nebreda AR. Cell density-dependent inhibition of epidermal growth factor receptor signaling by p38alpha mitogen- activated protein kinase via Sprouty2 downregulation. Molecular and Cellular Biology. 2009; 29: 3332-43. doi:10.1128/MCB.01955-08
DOIMinilungs from Human Embryonic Stem Cells to Study the Interaction of Streptococcus pneumoniae with the Respiratory Tract
Minilungs from Human Embryonic Stem Cells to Study the Interaction of Streptococcus pneumoniae with the Respiratory Tract. Sempere J, Rossi SA, Chamorro-Herrero I, González-Camacho F, de Lucas MP, Rojas-Cabañeros JM, Taborda CP, Zaragoza Ó, Yuste J, Zambrano A. Microbiol Spectr. 2022 Jun 29;10(3):e0045322. doi: 10.1128/spectrum.00453-22. Epub 2022 Jun 13. PMID: 35695525; PMCID: PMC9241785.
PUBMED DOISaliva is a Good Candidate to be the New Gold-Standard Sample for Neurodegenerative Diseases
Orive G, Lopera F, Carro E. Saliva is a Good Candidate to be the New Gold-Standard Sample for Neurodegenerative Diseases. J Alzheimers Dis. 2022;87(4):1497-1501. doi: 10.3233/JAD-220144.
DOIChoroid Plexus Aquaporins in CSF Homeostasis and the Glymphatic System: Their Relevance for Alzheimer's Disease
Municio C, Carrero L, Antequera D, Carro E. Choroid Plexus Aquaporins in CSF Homeostasis and the Glymphatic System: Their Relevance for Alzheimer's Disease. Int J Mol Sci. 2023 Jan 3;24(1):878. doi: 10.3390/ijms24010878.
DOIOn optimal temozolomide scheduling for slowly growing glioblastomas
Segura-Collar B, Jiménez-Sánchez J, Gargini R, Dragoj M, Sepúlveda-Sánchez JM, Pesic M, Ramírez MA, Ayala-Hernández LE, Sánchez-Gómez P*, Pérez-García VM*. (* Co-corresponding author) (2022) On optimal temozolomide scheduling for slowly growing glioblastomas. Neuro-Oncol. Adv. Sep 27;4(1): vdac155. PMID: 36325374 doi: 10.1093/noajnl/vdac155
DOIThe Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public. van der Spek RAA, van Rheenen W, Pulit SL, Kenna KP, van den Berg LH, Veldink JH; Project MinE ALS Sequencing Consortium. Amyotroph Lateral Scler Frontotemporal Degener. 2019 ;20:432-440.
DOIRestrained Th17 response and myeloid cell infiltration into the central nervous system by human decidua-derived mesenchymal stem cells during experimental autoimmune encephalomyelitis
Bravo B, Gallego MI, Flores AI; Bornstein R, Puente-Bedia A, Hernández J, de la Torre P, García-Zaragoza E, Pérez-Tavarez R, Grande J, Ballester A and Ballester S. Restrained Th17 response and myeloid cell infiltration into the central nervous system by human decidua-derived mesenchymal stem cells during experimental autoimmune encephalomyelitis. Stem Cell Research & Therapy (2016) 7, PMCID: PMC4797118 doi:10.1186/s13287-016-0304-5
PUBMED DOIInternalization and toxicity of polystyrene nanoplastics on inmortalized human neural stem cells
González-Caballero, M.C.; de Alba-González, M.; Torres-Ruiz, M.; Iglesias-Hernández, P.; Zapata, V.; Terrón, M.C.; Sachse, M.; Morales, M.; Martin-Folgar, R.; Liste, I.; Cañas-Portilla, A.I. (2024). Internalization and toxicity of polystyrene nanoplastics on inmortalized human neural stem cells. Chemosphere. 355, 141815. doi: 10.1016/j.chemosphere.2024.141815.
DOIVitamin D induces SIRT1 activation through K610 deacetylation in colon cancer
García-Martínez JM, Chocarro-Calvo A, Gutiérrez-Salmerón M, Martinez-Useros J, Fernandez-Aceñedo MJ, Fiuza MC, Cáceres-Rentero J, De la Vieja A, Barbáchano A, Muñoz A, Larriba MJ, and García-Jiménez C*. Vitamin D induces SIRT1 activation through K610 deacetylation in colon cancer. eLife 2023. 12:RP86913. doi: 10.7554/eLife.86913. PMID: 37530744
PUBMED DOIHepatitis E Virus Seroprevalence is Associated with Neurodegenerative Disorders in Older People with Dementia: A Case-Control Study
Pérez-García F, Vázquez-Morón S, Burgueño-García I, Muñoz-Gómez MJ, Zea-Sevilla MA, Calero M, Martínez I, Rábano A, Resino S. Hepatitis E Virus Seroprevalence is Associated with Neurodegenerative Disorders in Older People with Dementia: A Case-Control Study. J Infect Dis. 2023 227(7):873-877. doi: 10.1093/infdis/jiac268.
DOILow Levels of Amyloid Precursor Protein (APP) Promote Neurogenesis and Decrease Gliogenesis in Human Neural Stem Cells
Coronel R, Lopez-Alonso V, Gallego, M., Liste I. Low Levels of Amyloid Precursor Protein (APP) Promote Neurogenesis and Decrease Gliogenesis in Human Neural Stem Cells. Int J Mol Sci. 2023: 24(19):14635. Q1.
Multiplexed Biosensing Diagnostic Platforms Detecting Autoantibodies to Tumor-Associated Antigens from Exosomes Released by CRC Cells and Tissue Samples Showed High Diagnostic Ability for Colorectal Cancer
Ana Montero-Calle, Itziar Aranguren-Abeigon, María Garranzo-Asensio, Carmen Poves, María Jesús Fernández-Aceñero, Javier Martínez-Useros, Rodrigo Sanz, Jana Dziaková, Javier Rodriguez-Cobos, Guillermo Solís-Fernández, Eloy Povedano, Maria Gamella, Rebeca Magnolia Torrente-Rodríguez, Miren Alonso-Navarro, Vivian de los Ríos, J. Ignacio Casal, Gemma Domínguez, Ana Guzman-Aranguez, Alberto Peláez-García, José Manuel Pingarrón, Susana Campuzano, Rodrigo Barderas. Multiplexed Biosensing Diagnostic Platforms Detecting Autoantibodies to Tumor-Associated Antigens from Exosomes Released by CRC Cells and Tissue Samples Showed High Diagnostic Ability for Colorectal Cancer. Engineering 2021; 7:1393.
DOIA hispanolone-derived diterpenoid inhibits M2-Macrophage polarization in vitro via JAK/STAT and attenuates chitin induced inflammation in vivo
Jiménez-García L; Higueras MA; Herranz S; Hernández-López M; Luque A; de las Heras B; Hortelano S. 2018. A hispanolone-derived diterpenoid inhibits M2-Macrophage polarization in vitro via JAK/STAT and attenuates chitin induced inflammation in vivo. Biochem Pharmacol. 2018 Aug;154:373-383. https://doi.org/10.1016/j.bcp.2018.06.002.
DOISPROUTY-2 and E-cadherin regulate reciprocally and dictate colon cancer cell tumourigenicity
Barbáchano A, Ordóñez-Morán P, García JM, Sánchez A, Pereira F, Larriba MJ, Martínez N, Hernández J, Landolfi S, Bonilla F, Pálmer HG, Rojas JM & Muñoz A. SPROUTY-2 and E-cadherin regulate reciprocally and dictate colon cancer cell tumourigenicity. Oncogene. 2010; 29:4800-13. doi:10.1038/onc.2010.225
DOIIdentification of AAV serotypes for lung gene therapy in human embryonic stem cell-derived lung organoids
Identification of AAV serotypes for lung gene therapy in human embryonic stem cell-derived lung organoids. Meyer-Berg H, Zhou Yang L, Pilar de Lucas M, Zambrano A, Hyde SC, Gill DR. Stem Cell Res Ther. 2020 Oct 23;11(1):448. doi: 10.1186/s13287-020-01950-x. PMID: 33097094; PMCID: PMC7582027.
PUBMED DOIImplication of salivary lactoferrin and periodontal-mediated infections in Alzheimer's disease
Municio C, Carro E. Implication of salivary lactoferrin and periodontal-mediated infections in Alzheimer's disease. Neural Regen Res. 2023 Dec;18(12):2691-2692. doi: 10.4103/1673-5374.373712.
DOIIDP-410: a Novel Therapeutic Peptide that Alters N-MYC Stability and Reduces Angiogenesis and Tumor Progression in Glioblastomas
Gargini R, Segura-Collar B, Garranzo-Asensio M, Hortigüela R, Iglesias-Hernández P, Lobato-Alonso D, Moreno-Raja M, Esteban-Martin S, Sepúlveda-Sánchez JM, Nevola L, Sánchez-Gómez P. (2022) IDP-410: a Novel Therapeutic Peptide that Alters N-MYC Stability and Reduces Angiogenesis and Tumor Progression in Glioblastomas. Neurotherapeutics. Jan;19(1):408-420. PMID: 35099769 doi: 10.1007/s13311-021-01176-6
DOIEuropean mitochondrial haplogroups are associated with CD4+ T cell recovery in HIV-infected patients on combination antiretroviral therapy
European mitochondrial haplogroups are associated with CD4+ T cell recovery in HIV-infected patients on combination antiretroviral therapy. María Guzmán Fulgencio; Juan Berenguer; Dariela Micheloud; Amanda Fernández Rodríguez; Mónica García Álvarez; María Angeles Jiménez Sousa; José María Bellón; Yolanda Campos; Jaime Cosín; Teresa Aldámiz Echevarría; Pilar Catalán; Juan Carlos López; Salvador Resino. The Journal of antimicrobial chemotherapy. 2013; 68: 2349 - 2406. DOI: 10.1093/jac/dkt206
DOIComparative assessment of PDE 4 and 7 inhibitors as therapeutic agents in experimental autoimmune encephalomyelitis
González-García C, Bravo B, Ballester A, Gómez-Pérez R, Eguiluz C, Redondo M, Martínez A, Gil C and Ballester S. Comparative assessment of PDE 4 and 7 inhibitors as therapeutic agents in experimental autoimmune encephalomyelitis British Journal of Pharmacology (2013) 170-3, pp.602-613. PMCID: PMC3791998 doi:10.1111/bph.12308
PUBMED DOIMolecular effects of polystyrene nanoplastics on human neural stem cells
Martin-Folgar, R.; González-Caballero, M.C.; Torres-Ruiz, M.; Cañas-Portilla, A.I.; de Alba-González, M.; Liste, I.; Morales, M. (2024). Molecular effects of polystyrene nanoplastics on human neural stem cells. PLoS One. 19, e0295816. doi: 10.1371/journal.pone.0295816.
DOIValidation of dynamic risk stratification and impact of BRAF in risk assessment of thyroid cancer, a nation-wide multicenter study
Perez-Fernandez L, Sastre-Marcos J, Zafón C, Oleaga A, Castelblanco E, Capel I, Galofré JC, Guadalix S, De la Vieja A, and Riesco-Eizaguirre G*. Validation of dynamic risk stratification and impact of BRAF in risk assessment of thyroid cancer, a nation-wide multicenter study. Frontiers in Endocrinology 2023. 13:1071775. doi: 10.3389/fendo.2022.1071775. PMID: 36714606.
PUBMED DOIIdentification of Clusterin as a Major ABri- and ADan-Binding Protein Using Affinity Chromatography
Rostagno A, Calero M, Ghiso J. Identification of Clusterin as a Major ABri- and ADan-Binding Protein Using Affinity Chromatography. Methods Mol Biol. 2022 2466:49-60. doi: 10.1007/978-1-0716-2176-9_4.
DOIContenidos con Investigacion .
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Yolanda Campos González
Científica Titular de OPIs
Código ORCID: 0000-0003-4785-9659
Jefa de la Unidad de Patología Mitocondrial y ELA (PMIT).
Jefa del Área UFIEC.
Científica Titular del Instituto de Salud Carlos III.
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Mª Sonsoles Jiménez Sánchez
Técnica Especializada de OPI
Técnica Especializada de OPI.
Doctora en Farmacia
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Gerardo Alonso Munguía
Alumno de Doctorado
Listado de personal
Información adicional
La Unidad de Patología Mitocondrial (PMIT), perteneciente a la Unidad Funcional de Investigación en enfermedades Crónicas (UFIEC) del Instituto de Salud Carlos III (ISCIII), tiene como misión la realización de actividades de investigación básica y translacional en el campo de la disfunción mitocondrial y el metabolismo energético en las enfermedades mitocondriales y en la Esclerosis Lateral Amiotrófica (ELA), constituyéndose así en un recurso de soporte científico-técnico para la investigación, diagnóstico y tratamiento de estas enfermedades raras.
Actualmente desarrolla un proyecto financiado por la Fundación HNA, para el análisis de los genomas de pacientes con ELA, como parte de su colaboración con el Consorcio Internacional MinE, cuyo fin es el estudio del genoma de miles de pacientes, entre ellos cerca de 500 de origen español de los que se dispone de muestras en el laboratorio. En este proyecto se pretenden detectar nuevos genes candidatos responsables de la enfermedad, genes de susceptibilidad y asociaciones génicas. Además, a partir de nuevas mutaciones posiblemente patogénicas detectadas, estudia su patofisiología en la línea celular de motoneurona NSC-34.
Colaboraciones con instituciones
Miembro del Project MiNe Consortium (https://www.projectmine.com/)
Hospital La Paz, Madrid.
Hospital 12 de Octubre de Madrid.
DATOS DE CONTACTO:
Dra. Yolanda Campos González.
Directora de la UFIEC.
Jefa de la Unidad de Patología Mitocondrial y ELA (PMIT)
Instituto de Salud Carlos III. Unidad Funcional de Investigación de Enfermedades Crónicas. Unidad de Patología Mitocondrial y ELA. Edificio 53 del Campus ISCIII de Majadahonda. 53-01-155.
Ctra. Majadahonda-Pozuelo Km. 2,2. 28220-Majadahonda, Madrid. Spain.
+34 918223264
ORCID: 0000-0003-4785-9659