المؤلفون: Pedro González-Naranjo, Concepción Pérez, Marina González-Sánchez, Adrián Gironda-Martínez, Eugenia Ulzurrun, Fernando Bartolomé, Marcos Rubio-Fernández, Angeles Martin-Requero, Nuria E. Campillo, Juan A. Páez

المصدر: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 37, Iss 1, Pp 2348-2356 (2022)

مصطلحات موضوعية: Alzheimer’s disease, BACE1 inhibitor, BuChE inhibitor, indazole, multitarget drug, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1475-6366; https://doaj.org/toc/1475-6374

URL الوصول: https://doaj.org/article/4413ef31a44a48d79464776ae07d0209

المؤلفون: Víctor Antonio Blanco-Palmero, Marcos Rubio-Fernández, Desireé Antequera, Alberto Villarejo-Galende, José Antonio Molina, Isidro Ferrer, Fernando Bartolome, Eva Carro

المصدر: Biomedicines, Vol 9, Iss 9, p 1094 (2021)

مصطلحات موضوعية: Alzheimer’s disease, Parkinson’s disease, YKL-40, C-reactive protein, CSF and plasma biomarkers, inflammation, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/9/1094; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/3ec417ac598c44d58683dbd256fa4a56

المؤلفون: Juan Antonio Páez, Pedro González-Naranjo, Concepción Pérez, Marina González-Sánchez, Adrián Gironda-Martínez, Eugenia Ulzurrun, Fernando Bartolomé, Marcos Rubio-Fernández, Angeles Martin-Requero, Nuria E. Campillo

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: History, Polymers and Plastics, Business and International Management, Industrial and Manufacturing Engineering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6e955c3ae28343c89ab25a6bbf64c86f
https://doi.org/10.2139/ssrn.4052313

المؤلفون: José Martín-Nieto, George M.C. Janssen, Arnoud H. de Ru, Marcos Rubio-Fernández, Peter A. van Veelen, Cristina Quereda, Jesús Cruces, Paul J. Hensbergen, Mary Luz Uribe

المساهمون: Instituto de Salud Carlos III, Comunidad de Madrid, European Commission, Universidad de Alicante, Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología, Universidad de Alicante. Instituto Multidisciplinar para el Estudio del Medio 'Ramón Margalef', Genética Humana y de Mamíferos (GHM)

المصدر: Journal of Proteome Research
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Proteome Research, 20(6), 3268-3277. AMER CHEMICAL SOC

مصطلحات موضوعية: Proteomics, 0301 basic medicine, retina, BBSome, Glycosylation, Immunofluorescence Microscopy, Biology, Biochemistry, Retina, Article, Mice, 03 medical and health sciences, chemistry.chemical_compound, MDDG, KIAA1549, medicine, Animals, Humans, POMT1, Photoreceptor Cells, Dystroglycans, Gene, Outer segments, mass spectrometry, Mass spectrometry, 030102 biochemistry & molecular biology, fungi, outer segments, Retinal, General Chemistry, Genética, Phenotype, Cell biology, 030104 developmental biology, medicine.anatomical_structure, chemistry, Mutation, sense organs

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fafe27c43b22829d0b59067a4ae1a22a
https://doi.org/10.1021/acs.jproteome.1c00126

المؤلفون: Marta Cantero, Lluis Montoliu, María Jesús del Hierro, Santiago Josa, Diego Muñoz-Santos, Matías Morín, Marcos Rubio-Fernández, Almudena Fernández, Marta Castrillo, Andrea Montero, M A Moreno-Pelayo, Julia Fernández

المساهمون: Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Instituto de Salud Carlos III, Fundación Ramón Areces, Comunidad de Madrid, Centro de Investigación Biomédica en Red Cáncer (España)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Genotyping Techniques, Computer science, Mice, Transgenic, Computational biology, Cytoplasmic injection and electroporation, In vivo gene editing, Genome, DNA sequencing, Mouse model, 03 medical and health sciences, Mice, 0302 clinical medicine, Genome editing, CRISPR, Animals, Indel, Genotyping, Gene, Next‐generation sequencing, 030304 developmental biology, Protocol (science), Gene Editing, 0303 health sciences, General Medicine, Animal models, Models, Animal, Indicators and Reagents, CRISPR-Cas Systems, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2aa811279611a5e4cd7e38b0d1b5b64
https://pubmed.ncbi.nlm.nih.gov/32159922

المؤلفون: Jesús Cruces, Cristina Quereda, Mary Luz Uribe, Paul J. Hensbergen, José Martín-Nieto, Peter A. van Veelen, Arnoud H. de Ru, Marcos Rubio-Fernández, George M.C. Janssen

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Retina, Glycosylation, fungi, Retinal, Biology, Proteomics, Phenotype, Cell biology, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Downregulation and upregulation, medicine, In patient, sense organs, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a97cdee2ce77b84e67ea2015df092a69
https://doi.org/10.2139/ssrn.3713508

المؤلفون: Mary Luz Uribe, Cristina Susín-Lara, Jesús Cruces, Lluis Montoliu, Javier Vicente-Tejedor, José Martín-Nieto, Marcos Rubio-Fernández, Cristina Quereda, Francisco Germain, Pedro de la Villa

المساهمون: UAM. Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' (IIBM), Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología, Universidad de Alicante. Instituto Multidisciplinar para el Estudio del Medio 'Ramón Margalef', Genética Humana y de Mamíferos (GHM)

المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Scientific Reports

مصطلحات موضوعية: Retinal involvement, Photoreceptors, 0301 basic medicine, Glycosylation, genetic structures, lcsh:Medicine, Ribbon synapse, Mannosyltransferases, Protein O-mannosyltransferase, Mice, chemistry.chemical_compound, Retinal Rod Photoreceptor Cells, Conditional gene knockout, Dystroglycans, lcsh:Science, Mice, Knockout, Multidisciplinary, Walker-Warburg Syndrome, Cell biology, Dystroglycanopathy, medicine.anatomical_structure, Retinal Cone Photoreceptor Cells, Conditional knockout, Hypoglycosylation of α-dystroglycan, Medicina, Outer plexiform layer, Cre recombinase, Pomt1, Biology, Article, Mouse model, 03 medical and health sciences, Ribbon synapses, Electroretinography, medicine, Animals, Retina, lcsh:R, fungi, Retinal, Genética, 030104 developmental biology, chemistry, Synapses, biology.protein, Homeobox, lcsh:Q, Pikachurin, sense organs, Photoreceptor ribbon synapses

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bf65ab20ee4634afeec117c4524ee3c
https://doi.org/10.1038/s41598-018-26855-x

المؤلفون: Marcos Rubio-Fernández, RP Cotarelo, Rogelio Simón, Madalina Raducu, Aurelio Hernández-Laín, Jesús Cruces, Ana María Camacho

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Biopsy, Generalized muscle weakness, DNA Mutational Analysis, Immunoblotting, Mutation, Missense, Biology, Corpus callosum, N-Acetylglucosaminyltransferases, Quadriceps Muscle, medicine, Missense mutation, Humans, Child, Muscle biopsy, medicine.diagnostic_test, Pachygyria, Brain, Walker-Warburg Syndrome, medicine.disease, Immunohistochemistry, Magnetic Resonance Imaging, Hypotonia, Pediatrics, Perinatology and Child Health, Mutation, Congenital muscular dystrophy, Neurology (clinical), medicine.symptom, Ventriculomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67df319a141aaf2cb63228dd29f827c2
https://pubmed.ncbi.nlm.nih.gov/24282183

المؤلفون: Fernando Bartolome, Desiree Antequera, Macarena de la Cueva, Marcos Rubio-Fernandez, Nerea Castro, Consuelo Pascual, Antoni Camins, Eva Carro

المصدر: Journal of Neuroinflammation, Vol 17, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Megalin, Leptin, Obesity, High-fat diet, Mitochondrial biogenesis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1742-2094

URL الوصول: https://doaj.org/article/b6d91bb541cb4cc3ae593efacfeebc38