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Research projects
#Proyectos relacionados con Mecanismos de patología en la lisinuria con intolerancia a proteínas
106 results. Displaying from 1 to 106
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Investigating the molecular mechanisms of exosome production under cellular stress
2016
Senior Researcher : Antonio Zorzano Olarte Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona. -
Development of therapeutic compounds based on the molecular interaction sites between the A238L viral protein and the transcriptional complexes that regulate the synthesis of pro-inflammatory and tumor mediators
2016
Senior Researcher : Yolanda Revilla Novella Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Identification of the nucleotide cellular sensor and its interactome
2016
Senior Researcher : Marçal Pastor Anglada Research Centre or Institution : CIBEREHD - Universidad de Barcelonamore information on Identification of the nucleotide cellular sensor and its interactome
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Interactions of the protein N-acetylglucosamine kinase with different elements of gene regulation in Yarrowia lipolytica
2016
Senior Researcher : Carlos Gancedo Rodríguez Research Centre or Institution : Instituto de Investigaciones Biomédicas "Alberto Sols". CSIC-Universidad Autónoma de Madrid. -
Role of the lysosomal protein LAMP2 in the AD-like phenotype induced by HSV-1: Study of the LAMP2 interactome in virus infected neurons
2016
Senior Researcher : María Jesús Bullido Gómez-Heras Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
WIP differential interactome during its oncogenic or tumor suppressor activity
2016
Senior Researcher : Inés María Antón Gutiérrez Research Centre or Institution : CIBERNED/CNB-CSIC. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas-Centro Nacional de Biotecnología. Madridmore information on WIP differential interactome during its oncogenic or tumor suppressor activity
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New functional complexes deriving from the interaction of Gaq with proteins that contain PB1 domains, and the possible repercussion of this in cardiovascular pathologies
2014
Senior Researcher : Catalina Ribas Núñez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Photoselective inhibition of protein-protein interactions to study interactomic networks and the development of new therapies
2014
Senior Researcher : Pau Gorostiza Langa Research Centre or Institution : Instituto de Bioingeniería de Cataluña (IBEC). Barcelona. -
Study of the tissue-specific interactome of the GRK2 node involved in insulin resistance and obesity: pathological repercussions
2014
Senior Researcher : Cristina Murga Montesinos Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
The molecular bases of disease: biointeractomics of programmed cell death
2014
Senior Researcher : Miguel Ángel De la Rosa Acosta Research Centre or Institution : cicCartuja, Instituto de Bioquímica Vegetal y Fotosíntesis. Universidad de Sevilla-CSICmore information on The molecular bases of disease: biointeractomics of programmed cell death
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The structural bases of tumoral development associated with transcription regulating interactome defects
2014
Senior Researcher : Carlos Fernández Tornero Research Centre or Institution : Centro de Investigaciones Biológicas (CIB) (CSIC) -
Inhibition of the protein that regulates SLC4A2 cell ion metabolism as a new therapy in leukaemia, lymphoma and myeloma
2014
Senior Researcher : José Ángel Martínez-Climent Research Centre or Institution : Centro de Investigación Médica Aplicada de la Universidad de Navarra -
Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
2020
Senior Researcher : Vicente Rubio Zamora Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC. -
Phenotyping of animal models of rare diseases with visual disability
2020
Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madridmore information on Phenotyping of animal models of rare diseases with visual disability
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Propionic acidemia: impact on the epigenome and the proteome in relation to the cardiac and neurological phenotype
2020
Senior Researcher : Eva María Richard Rodríguez Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM -
Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation
2020
Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona -
The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development
2020
Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM -
Advanced gene editing technologies to restore LAMA2 on merosin-deficient congenital muscular dystrophy type 1A
2018
Senior Researcher : Marc Güell Cargol Research Centre or Institution : Universidad Pompeu Fabra. Barcelona -
Artificial intelligence and machine learning in human diseases
2018
Senior Researcher : Pablo Lapunzina Badía Research Centre or Institution : INGEMM-Hospital Universitario La Paz-CIBERER. Madridmore information on Artificial intelligence and machine learning in human diseases
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Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
2018
Senior Researcher : Juan Pedro Bolaños Hernández Research Centre or Institution : Instituto de Biología Funcional y Genómica, Universidad de Salamanca-CSIC -
Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice
2018
Senior Researcher : Cristina Fillat Fonts Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.more information on Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice
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Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
2018
Senior Researcher : Juan Viña Ribes Research Centre or Institution : Universidad de Valencia. -
Molecular mechanisms underlying Zic2-associated holoprosencephaly
2018
Senior Researcher : Eloisa Herrera González de Molina Research Centre or Institution : Instituto de Neurociencias. CSIC-Universidad Miguel Hernández. Alicante.more information on Molecular mechanisms underlying Zic2-associated holoprosencephaly
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New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
2018
Senior Researcher : Pablo Huertas Sánchez Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)more information on New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
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Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease
2018
Senior Researcher : María Luisa Toribio García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease
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Systems medicine applied to the identification of new therapeutic targets in rare genetic-based diseases
2018
Senior Researcher : Juan Antonio García Ranea Research Centre or Institution : CIBERER. Universidad de Málaga -
Therapeutic strategy against Huntington's disease through the synergistic activation of AMPK
2018
Senior Researcher : Rafael Vázquez Manrique Research Centre or Institution : Instituto de Investigación Sanitaria La Fe. Valencia -
A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing
2016
Senior Researcher : Carmen Ayuso García Research Centre or Institution : Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM). CIBERER. Madrid. -
Activation of innate immunity in dysferlin-deficient cells: new therapeutic targets
2016
Senior Researcher : Noemí de Luna Salvà -
AGC1 deficiency and calcium signaling in mitochondria: a new disease model for the study of pathogenic mechanisms and for the development of therapeutic strategies
2016
Senior Researcher : Jorgina Satrústegui Gil-Delgado Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Astrocytes: new anti-epileptic targets in Lafora disease
2016
Senior Researcher : Pascual Felipe Sanz Bigorramore information on Astrocytes: new anti-epileptic targets in Lafora disease
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Dyskeratosis congenita. New models, New molecular keys and New treatments
2016
Senior Researcher : María Luisa Cayuela Fuentes Research Centre or Institution : Hospital Clínico Universitario Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca. El Palmar, Murcia.more information on Dyskeratosis congenita. New models, New molecular keys and New treatments
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Modeling of familial cerebral cavernous malformation through cellular reprogramming
2016
Senior Researcher : Miguel Ángel Fidalgo Pérez Research Centre or Institution : Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS). Universidad de Santiago de Compostela -
Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)
2016
Senior Researcher : César Cobaleda Hernández Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)
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Phosphodiesterase inhibitors as Friedreich's ataxia treatment
2016
Senior Researcher : Pilar González Cabo Research Centre or Institution : Centro de Investigación Biomédica en Red (CIBER de Enfermedades Raras). Facultad de Medicina y Odontología. Universidad de Valenciamore information on Phosphodiesterase inhibitors as Friedreich's ataxia treatment
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Systemic analysis of the gene regulatory networks involved in the specification and maintenance of the retinal pigment epithelium: towards new therapies for retinal degenerative diseases
2016
Senior Researcher : Paola Bovolenta Nicolao Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper)
2016
Senior Researcher : Francesc Palau Martínez Research Centre or Institution : Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona. -
The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application
2016
Senior Researcher : Ángeles Almeida Parra Research Centre or Institution : Instituto de Investigación Biomédica de Salamanca (IBSAL). CSIC-Universidad de Salamanca. -
Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
2016
Senior Researcher : María del Carmen Sánchez Fernández Research Centre or Institution : Instituto de Investigación contra la Leucemia Josep Carreras (IJC). Barcelona. -
Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease
2016
Senior Researcher : José Jesús Fernández Rodríguez Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid -
Agenesis of the corpus callosum. Basic mechanisms and treatment
2014
Senior Researcher : Marta Nieto López Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madridmore information on Agenesis of the corpus callosum. Basic mechanisms and treatment
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Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia
2014
Senior Researcher : Felipe Cortés Ledesma Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER) -
Characterisation of MORC2, a new gene involved in peripheral neuropathies
2014
Senior Researcher : Carmen Espinós Armero Research Centre or Institution : Centro de Investigación Príncipe Felipemore information on Characterisation of MORC2, a new gene involved in peripheral neuropathies
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Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy
2014
Senior Researcher : Lourdes Ruiz Desviat Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Identification of the function of the Wt1gene in Huntington's disease
2014
Senior Researcher : Ofelia M. Martínez Estrada Research Centre or Institution : Departamento de Biología Celular. Universidad de Barcelonamore information on Identification of the function of the Wt1gene in Huntington's disease
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Models for congenital muscular dystrophies: the search for phenotype suppressors
2014
Senior Researcher : Enrique Martín Blanco Research Centre or Institution : Instituto de Biología Molecular de Barcelona. CSIC.more information on Models for congenital muscular dystrophies: the search for phenotype suppressors
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Molecular mechanisms in Dravet's syndrome
2014
Senior Researcher : Francisco Zafra Gómez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Molecular mechanisms in Dravet's syndrome
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Molecular therapy for Laminopathies
2014
Senior Researcher : Ana María González García Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid -
New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome
2014
Senior Researcher : José María González-Granado Research Centre or Institution : Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid -
Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
2014
Senior Researcher : Rebeca Pérez de Diego Research Centre or Institution : IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid. -
Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life
2014
Senior Researcher : Mercedes Martínez-Pardo Casanova Research Centre or Institution : CSUR (Centro de Referencia Nacional) de Enfermedades Metabólicas poco frecuentes. Hospital Universitario Ramón y Cajal (Madrid) -
Study of the molecular bases of hereditary blindness
2014
Senior Researcher : Ana Méndez Zunzunegui Research Centre or Institution : Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.more information on Study of the molecular bases of hereditary blindness
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The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications
2014
Senior Researcher : Esther Pérez-Navarro Research Centre or Institution : Universidad de Barcelona. -
Tracing tissue damage and the adaptive response in rare hereditary haemochromatosis for the identification of specific therapeutic targets
2014
Senior Researcher : José Manuel Bautista Santa Cruz Research Centre or Institution : Instituto de Investigación Hospital 2 de Octubre. Madrid. -
Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease
2011
Senior Researcher : Beatriz Morte Molina Research Centre or Institution : Centros de Investigación Biomédica en Red (CIBER). Madrid -
Analysis of the contribution of CRB2 protein to the establishment and permanence of adherent joins in the pigmentary epithelium, and its relationship with retinal dystrophies
2011
Senior Researcher : Mª Concepción Lillo Delgado Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca. -
Cdk5: a therapeutic target for the treatment of motor and cognitive deficits in Huntington's disease
2011
Senior Researcher : Silvia Ginés Padrós Research Centre or Institution : Universidad de Barcelona. -
Chronic activation of the TGF‑beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix
2011
Senior Researcher : Gustavo Egea Guri Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona. -
Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain
2011
Senior Researcher : Ana Vega Gliemmo Research Centre or Institution : Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela. -
Directed neuronal differentiation of stem-like glioma initiating cells
2011
Senior Researcher : Núria de la Iglesia Zaragoza Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.more information on Directed neuronal differentiation of stem-like glioma initiating cells
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Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models
2011
Senior Researcher : Miguel Ángel Moreno Pelayo Research Centre or Institution : Hospital Universitario Ramón y Cajal, IRYCIS. Madrid. -
Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies
2011
Senior Researcher : Mª del Pilar Rodríguez Pombo Research Centre or Institution : Universidad Autónoma de Madrid. -
Modification of the folding and function of mutated opsins by cellular factors as a new therapeutic strategy for degenerative diseases of the retina
2011
Senior Researcher : Pere Garriga Solé Research Centre or Institution : Universidad Politécnica de Cataluña. Barcelona. -
Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis
2011
Senior Researcher : Joan J. Guinovart Cirera Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona. -
Molecular mechanisms, experimental models and therapeutic approaches in Frontotemporal Lobe Dementia (DLFT-TDP)
2011
Senior Researcher : Ángeles Martín Requero Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC) -
Pathological mechanisms in Lysinuria with protein intolerance
2011
Senior Researcher : Manuel Palacín Prieto Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona.more information on Pathological mechanisms in Lysinuria with protein intolerance
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Study of the functional implications of GRK2 serine-threonine kinase in Hereditary Haemorrhagic Telangiectasia
2011
Senior Researcher : Petronila Penela Márquez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Study of the role of PSGL-1 in the control of the development of autoimmune diseases
2011
Senior Researcher : Ana Carmen Urzainqui Mayayo Research Centre or Institution : Hospital Universitario de la Princesa. Madrid. -
The complete sequencing of the exomic genome of systemic lupus erythematosus in families of European origin with multiple cases: the identification of rare mutations and their functional consequences
2011
Senior Researcher : Marta Eugenia Alarcón Riquelme Research Centre or Institution : Centro Pfizer. Universidad de Granada. Junta de Andalucía de Genómica e Investigación Oncológica (GENYO). Granada -
The correction of fibroblasts with mutations causing Wiskott Aldrich syndrome by means of adeno-associated viruses (AAV). The effects of corrective methods on cellular reprogramming by means of episomal vectors
2011
Senior Researcher : Miguel Ángel de la Fuente García Research Centre or Institution : Instituto de Biología y Genética Molecular (IBGM).Valladolid. -
The development of molecular scalpels for the repair of genes involved in single gene diseases
2011
Senior Researcher : Guillermo Montoya Blanco Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid -
The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis
2011
Senior Researcher : Andrés Celestino García Montero Research Centre or Institution : Instituto de Biología Molecular y Celular del Cáncer. Universidad de Salamanca-CSIC. -
The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms
2011
Senior Researcher : Guillermo Antiñolo Gil Research Centre or Institution : Hospital Universitario Virgen del Rocío. Sevilla. -
The molecular bases for variability in the presentation and clinical development of Wilson's disease
2011
Senior Researcher : Ignacio Vicente-Sandoval Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
The transplant of bioengineered skin for cutaneous regeneration in patients with Dystrophic Epidermolysis Bullosa
2011
Senior Researcher : María José Escámez Toledano Research Centre or Institution : Universidad Carlos III de Madrid. -
Translational Research into rare diseases of iron metabolism using massive parallel sequencing
2011
Senior Researcher : Mª del Carmen Sánchez Fernández Research Centre or Institution : Instituto de Medicina Predictiva y Personalizada del Cáncer. Barcelona. -
Alternative therapies for inherited metabolic diseases
2008
Senior Researcher : Alejandra Gámez Abascal Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Alternative therapies for inherited metabolic diseases
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Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease
2008
Senior Researcher : José Javier Lucas Lozano Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Characterisation of the autoantigen epitope in Goodpasture syndrome using phage display technology
2008
Senior Researcher : Jesús Rodríguez Díaz Research Centre or Institution : Instituto de Agroquímica y Tecnología deAlimentos(IATA). CSIC. Valencia. (Spain). -
Contributions of aquaporins and transduction proteins in the treatment of achondroplasia
2008
Senior Researcher : Jesús Pintor Just Research Centre or Institution : Escuela Universitaria de Óptica. Universidad Complutense. Madrid -
Detection of molecules related to the mechanism of protection against canine Leishmaniasis. Differential gene expression in cells activated during the protection response induced by the LACK vaccine
2008
Senior Researcher : Vicente Emilio Larraga Rodríguez de Vera Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC) -
Development of a therapy for the treatment of congenital dyskeratosis, X-linked Werner syndrome and aplastic anaemia based on the reactivation of telomerase activity by an internal fragment of dyskerin
2008
Senior Researcher : Rosario Perona Abellón Research Centre or Institution : Instituto de Investigaciones Biomédicas de Madrid. CSIC-UAM. -
Development of a vaccine against Fasciola hepatica based on the use of bioinformatics tools
2008
Senior Researcher : Antonio Muro Álvarez Research Centre or Institution : Centro de Investigación de Enfermedades Tropicales de la Universidad de Salamanca (CIETUS) -
Effect of the oleic acid neurotrophic factor in an animal model of Down syndrome. Implications for central nervous system development
2008
Senior Researcher : Ana Velasco Criado Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca. -
Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders
2008
Senior Researcher : Marcos Malumbres Martínez Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid -
Involvement of Ras oncogenes in the development of Costello and Noonan syndromes
2008
Senior Researcher : Carmen Guerra González Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madridmore information on Involvement of Ras oncogenes in the development of Costello and Noonan syndromes
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Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome
2008
Senior Researcher : José Antonio Esteban García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase
2008
Senior Researcher : Óscar Millet Aguilar-Galindo Research Centre or Institution : Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya. -
Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria
2008
Senior Researcher : Ignacio del Castillo Fernández del Pino Research Centre or Institution : Hospital Universitario Ramón y Cajal. Madrid. -
New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease
2008
Senior Researcher : Rubén Darío Artero Allepuz Research Centre or Institution : Facultad de Biología. Universidad de Valencia -
Sp2-iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders
2008
Senior Researcher : Carmen Ortiz Mellet Research Centre or Institution : Facultad de Química. Universidad de Sevilla -
Structural approach to the molecular basis of two rare kidney diseases
2008
Senior Researcher : Óscar Llorca Blanco Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)more information on Structural approach to the molecular basis of two rare kidney diseases
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Study of the possible immunomodulation caused by Anisakis simplex larval antigens
2008
Senior Researcher : María del Carmen Cuéllar del Hoyo Research Centre or Institution : Facultad de Farmacia. Universidad Complutense. Madrid -
Study of the regulation of protein PSTPIP1 via tyrosine phosphorylation and its contribution to the aetiology of the PAPA autoinflammatory disease
2008
Senior Researcher : Andrés Alonso García Research Centre or Institution : Instituto de Biología y Genética Molecular. CSIC. Valladolid. -
Towards a complete model of the molecular network disrupted in Fanconi anaemia
2008
Senior Researcher : Miguel Ángel Genestar Pujana Research Centre or Institution : Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.more information on Towards a complete model of the molecular network disrupted in Fanconi anaemia
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Type Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics
2008
Senior Researcher : Francisco España Furió Research Centre or Institution : Hospital Universitario La Fe. Valencia. -
Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation
2006
Senior Researcher : Montserrat Milà Recasens Research Centre or Institution : Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic. Barcelona -
Characterisation of the astrocytic function in megalencephalic leukoencephalopathy
2006
Senior Researcher : Raúl Estévez Povedano Research Centre or Institution : Instituto de Investigaciones Biomédicas de Bellvitge-Universidad de Barcelona. -
Dendritic alterations in Down's Syndrome: the role of the pathway regulating local mTOR translation
2006
Senior Researcher : María de la Luz Montesinos Gutiérrez Research Centre or Institution : Facultad de Medicina. Universidad de Sevilla -
Integration and modelling of the metabolism and biological effects of the biogenic amines, biomolecules directly involved in rare and emerging diseases
2006
Senior Researcher : Miguel Ángel Medina Torres Research Centre or Institution : Facultad de Ciencias. Universidad de Málaga -
Molecular analysis of the Ellis-van Creveld Syndrome in the EVC3 epiphyseal growth plate and evaluation of the BBS-EvC connection
2006
Senior Researcher : Víctor Luis Ruiz Pérez Research Centre or Institution : Instituto de Investigaciones Biomédicas "Alberto Sols". CSIC-Universidad Autónoma de Madrid. -
Molecular foundations of the human ectodermic dysplasia syndrome
2006
Senior Researcher : Paloma Pérez Sánchez Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC.more information on Molecular foundations of the human ectodermic dysplasia syndrome
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Neurobiological foundations of and genetic susceptibility to fibromyalgia
2006
Senior Researcher : Manuel J. López Pérez Research Centre or Institution : Facultad de Veterinaria. Universidad de Zaragozamore information on Neurobiological foundations of and genetic susceptibility to fibromyalgia
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Study of the molecular foundations of congenital malformations: cardiovascular, oculofacial and skeletal
2006
Senior Researcher : María José Trujillo Tiebas Research Centre or Institution : Fundación Jiménez Díaz. Madrid -
Study of the role of the epigenetic mechanisms in the Fanconi Anaemia cancer tendency phenotype
2006
Senior Researcher : Carlos Pipaón González Research Centre or Institution : Hospital Universitario Marqués de Valdecilla. Universidad de Cantabria. Santander. -
Therapeutic trials in cells from patients suffering hereditary haemorrhagic telangiectasis (HHT) and cell gene therapy employing endothelial progenitor cells in an HHT murine model
2006
Senior Researcher : Luisa María Botella Cubells Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)