المؤلفون: Mattia Gentile, Patrizia D'Adamo, Alessandra Gabellone, Lucia Margari, Susanna Gelmini, Romina Ficarella, Antonia Peschechera, Lucia Marzulli, Maria Lidia Mignogna, Emanuela Ponzi, Massino Alessio

المصدر: Human molecular genetics. 31(9)

مصطلحات موضوعية: Dendritic spine, Autism Spectrum Disorder, Dendritic spine morphogenesis, Down-Regulation, Biology, medicine.disease_cause, NonStop, Mice, Downregulation and upregulation, Intellectual Disability, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), Mutation, Gene knockdown, Parkinsonism, General Medicine, medicine.disease, Phenotype, Disease Models, Animal, rab GTP-Binding Proteins, Cancer research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40da3621204fdfb7c7b2949c2588c436
https://pubmed.ncbi.nlm.nih.gov/34761259

المؤلفون: Maja Malnar, Angela Bachi, Helena H. Chowdhury, Anemari Horvat, Patrizia D’Adamo, Antonia Gurgone, Saša Trkov Bobnar, Marko Muhič, Lorenzo Piemonti, Maria Lidia Mignogna, Michela Masetti, Jelena Velebit, Veronica Bianchi, Robert Zorec, Matjaž Stenovec, Alessia Mercalli, Katja Fink, Sara Belloli, Stefano Taverna, Maja Potokar, Marko Kreft, Rosa Maria Moresco, Nina Vardjan, Maddalena Ripamonti, Umberto Restuccia

المساهمون: D'Adamo, Patrizia, Horvat, Anemari, Gurgone, Antonia, Mignogna, Maria Lidia, Bianchi, Veronica, Masetti, Michela, Ripamonti, Maddalena, Taverna, Stefano, Velebit, Jelena, Malnar, Maja, Muhič, Marko, Fink, Katja, Bachi, Angela, Restuccia, Umberto, Belloli, Sara, Moresco, Rosa Maria, Mercalli, Alessia, Piemonti, Lorenzo, Potokar, Maja, Bobnar, Saša Trkov, Kreft, Marko, Chowdhury, Helena H, Stenovec, Matjaž, Vardjan, Nina, Zorec, R, D'Adamo, P, Horvat, A, Gurgone, A, Mignogna, M, Bianchi, V, Masetti, M, Ripamonti, M, Taverna, S, Velebit, J, Malnar, M, Muhic, M, Fink, K, Bachi, A, Restuccia, U, Belloli, S, Moresco, R, Mercalli, A, Piemonti, L, Potokar, M, Bobnar, S, Kreft, M, Chowdhury, H, Stenovec, M, Vardjan, N

المصدر: Metabolism
Metabolism, clinical and experimental
116 (2021): 154463. doi:10.1016/j.metabol.2020.154463
info:cnr-pdr/source/autori:D'Adamo P.; Horvat A.; Gurgone A.; Mignogna M.L.; Bianchi V.; Masetti M.; Ripamonti M.; Taverna S.; Velebit J.; Malnar M.; Muhic M.; Fink K.; Bachi A.; Restuccia U.; Belloli S.; Moresco R.M.; Mercalli A.; Piemonti L.; Potokar M.; Bobnar S.T.; Kreft M.; Chowdhury H.H.; Stenovec M.; Vardjan N.; Zorec R./titolo:Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse/doi:10.1016%2Fj.metabol.2020.154463/rivista:Metabolism, clinical and experimental (Print)/anno:2021/pagina_da:154463/pagina_a:/intervallo_pagine:154463/volume:116

مصطلحات موضوعية: 0301 basic medicine, CTX, context memory, Male, Endocrinology, Diabetes and Metabolism, Glucose uptake, Intellectual disability, FRET, Förster Resonance Energy Transfer, SV, synaptic vesicle, XLID, X-linked intellectual disability, Mice, 0302 clinical medicine, Endocrinology, Basic Science, GDI1 knockout mice, Aerobic glycolysis, Astrocytes, cAMP, Glycolysis, Gdi1 KO, full knockout of Gdi1, Cells, Cultured, Guanine Nucleotide Dissociation Inhibitors, NA, noradrenaline, Mice, Knockout, Cultured, 3-Cl-5-OH-BA, 3-chloro-5-hydroxybenzoic acid, Animals, Brain, Deoxyglucose, Down-Regulation, Glucose, Intellectual Disability, Maze Learning, Memory, Memory Disorders, [18F]-FDG, [18F]-fluoro-2-deoxy-d-glucose, Aerobic glycolysi, cAMP, cyclic adenosine monophosphate, GlastGdi1flox/Y, GLAST:CreERT2+/Gdi1lox/Y inducible astrocyte-specific Gdi1 KO male mice, medicine.anatomical_structure, intellectual disability, Knockout mouse, Astrocyte, Gdi1 WT, wild type, medicine.medical_specialty, Cells, Knockout, 030209 endocrinology & metabolism, Biology, 2-DG, 2-deoxy-d-glucose, sEPSCs, spontaneous excitatory postsynaptic currents, CNS, central nervous system, SEM, standard error of the mean, 03 medical and health sciences, αGDI, α guanosine dissociation inhibitor protein coded by GDI1 gene, CFP, cyan fluorescent protein, Downregulation and upregulation, Internal medicine, medicine, aerobic glycolysis, GlastGdi1X/Y, male mice (Gdi1X/Y) carrying the GLAST:CreERT2 transgene, GLUT1, d-glucose transporter, Wild type, astrocytes, GFAP, glial fibrillary acidic protein, PSD, postsynaptic density, GDI1, guanosine dissociation inhibitor 1 gene, YFP, yellow fluorescent protein, 030104 developmental biology, GPCR, G-protein coupled receptor, Anaerobic glycolysis, GPR81, G-protein receptor 81, CS, conditional stimulus, tone, PKA, protein kinase A, MCTs, monocarboxylate transporters, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b634b090f73e01f5e64f5a419978ac
http://europepmc.org/articles/PMC7871014

المؤلفون: Paolo Marra, Susanna Gelmini, Pedro Espinosa, Maria Lidia Mignogna, Rosa Maria Moresco, Camilla Bellone, Giulia Ranieri, Stefano Musardo, Patrizia D'Adamo, Valentina Murtaj, Sara Belloli

المساهمون: Mignogna, M, Musardo, S, Ranieri, G, Gelmini, S, Espinosa, P, Marra, P, Belloli, S, Murtaj, V, Moresco, R, Bellone, C, D'Adamo, P

المصدر: Molecular Psychiatry
Molecular psychiatry (Online) 26 (2021): 6531–6549. doi:10.1038/s41380-021-01155-5
info:cnr-pdr/source/autori:Mignogna M.L.; Musardo S.; Ranieri G.; Gelmini S.; Espinosa P.; Marra P.; Belloli S.; Murtaj V.; Moresco R.M.; Bellone C.; D'Adamo P./titolo:RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour/doi:10.1038%2Fs41380-021-01155-5/rivista:Molecular psychiatry (Online)/anno:2021/pagina_da:6531/pagina_a:6549/intervallo_pagine:6531–6549/volume:26

مصطلحات موضوعية: 0301 basic medicine, Dendritic spine, Protein subunit, Dendritic Spines, AMPA receptor, Biology, GluA2-AMPAR, Article, MED/50 - SCIENZE TECNICHE MEDICHE APPLICATE, 03 medical and health sciences, Cellular and Molecular Neuroscience, Glutamatergic, Mice, 0302 clinical medicine, Postsynaptic potential, Intellectual Disability, Animals, Small GTPase, Receptor, Molecular Biology, Neurons, Neuronal Plasticity, Biological techniques, Antagonist, RAB39B-mediated, Psychiatry and Mental health, 030104 developmental biology, nervous system, Receptors, Glutamate, rab GTP-Binding Proteins, Glucose metabolism, RAB39B gene, AMPA receptor, Calcium, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3919cb3b227de0ef56db43f48a82821d
https://pubmed.ncbi.nlm.nih.gov/34035473

المؤلفون: Patrizia D'Adamo, Maria Lidia Mignogna

المصدر: Small GTPases

مصطلحات موضوعية: 0301 basic medicine, post-synaptic, GTPase, Review, Biology, Biochemistry, vesicle transport, dendrite, neuronal cells, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Humans, Axon, synaptic function, neuronal trafficking, axon, RAB GTPases, Vesicle, Biological Transport, Cell Biology, Dendrites, Cell biology, Vesicular transport protein, 030104 developmental biology, medicine.anatomical_structure, rab GTP-Binding Proteins, Synapses, pre-synaptic, Rab, Ras superfamily, 030217 neurology & neurosurgery, Function (biology), Intracellular

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1047d18b363e8feb817ea8e29c3b11cf
http://europepmc.org/articles/PMC5902211

المؤلفون: Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, Francesca Fanelli, Francesco Raimondi, Lisa Mapelli, Silvia Bassani, Huaqiang Fang, Eelco Van Anken, Massimo Alessio, Maria Passafar

المصدر: Nature, Nature Communications. 6(1):1-15

الإتاحة: https://ideas.repec.org/a/nat/natcom/v6y2015i1d10.1038_ncomms7504.html

المؤلفون: Silvia Gatti, Maila Giannandrea, Maria Lidia Mignogna, Lorenzo Morè, Veronica Bianchi, Patrizia D'Adamo, Michela Masetti

المصدر: Neuroscience & Biobehavioral Reviews. 46:302-314

مصطلحات موضوعية: Central Nervous System, G protein, Cognitive Neuroscience, Nerve Tissue Proteins, GTPase, Biology, Behavioral Neuroscience, Cognition, Membrane Transport Modulators, Animals, Humans, Compartment (development), Neurons, Effector, Vesicle, Membrane transport, Cell biology, Disease Models, Animal, Neuropsychology and Physiological Psychology, rab GTP-Binding Proteins, Rab, Nervous System Diseases, Cognition Disorders, Neuroglia, Neuroscience, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12098dc505ad9c94ade461494ccda7e7
https://doi.org/10.1016/j.neubiorev.2013.12.009

المؤلفون: Jenny Sassone, Barbara Poletti, Roberta Villa, Maria Teresa Bonati, Vincenzo Silani, Paola Carrera, Floriano Girotti, Gabriele Buongarzone, Maria Lidia Mignogna, Edoardo Monfrini, Maurizio Ferrari, Alessio Di Fonzo, Andrea Ciammola, Patrizia D'Adamo, Claudia Cinnante

المساهمون: Ciammola, Andrea, Carrera, Paola, Di Fonzo, Alessio, SASSONE PAGANO, Jenny, Villa, Roberta, Poletti, Barbara, Ferrari, Maurizio, Girotti, Floriano, Monfrini, Edoardo, Buongarzone, Gabriele, Silani, Vincenzo, Cinnante, Claudia Maria, Mignogna, Maria Lidia, D'Adamo, Patrizia, Bonati, Maria Teresa

مصطلحات موضوعية: 0301 basic medicine, Male, Substantia nigra, Parkinsonism, Bioinformatics, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Basal Ganglia Diseases, Intellectual Disability, Intellectual disability, medicine, Humans, Exome sequencing, Aged, Genetics, Mosaicism, Putamen, RAB39B, Genetic Diseases, X-Linked, Parkinson Disease, Postural tremor, Middle Aged, medicine.disease, Somatic mosaicism, nervous system diseases, Pedigree, 030104 developmental biology, Neurology, rab GTP-Binding Proteins, Mutation, Neurology (clinical), Geriatrics and Gerontology, Psychology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597ef9e70a6a5472a4f5d7a4a8b14d23

المؤلفون: Antonia Gurgone, Maria Passafaro, Maila Giannandrea, Francesca Fanelli, Silvia Gatti, José A. Esteban, Silvia Bassani, Lisa Mapelli, Patrizia D'Adamo, Eelco van Anken, Richard L. Huganir, Francesco Raimondi, Huaqiang Fang, Massimo Alessio, Maria Lidia Mignogna

المساهمون: Fondazione Telethon, Jérôme Lejeune Foundation, Mignogna, Ml, Giannandrea, M, Gurgone, A, Fanelli, F, Raimondi, F, Mapelli, L, Bassani, S, Fang, Hq, Van Anken, E, Alessio, M, Passafaro, M, Gatti, S, Esteban, Ja, Huganir, R, D'Adamo, P, Mignogna, M. L., Giannandrea, M., Gurgone, A., Fanelli, F., Raimondi, F., Mapelli, L., Bassani, S., Fang, H., Van Anken, E., Alessio, M., Passafaro, M., Gatti, S., Esteban, J. A., Huganir, R., D'Adamo, P.

المصدر: Nature Communications
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Glycosylation, General Physics and Astronomy, Golgi Apparatus, GTPase, Hippocampus, Synaptic Transmission, Mice, Chlorocebus aethiops, Receptors, AMPA, Glutathione Transferase, Neurons, Multidisciplinary, Nuclear Proteins, Animals, COS Cells, Carrier Proteins, Cognition Disorders, Electrophysiology, Gene Expression Regulation, Green Fluorescent Proteins, Guanosine Triphosphate, HEK293 Cells, Humans, Intellectual Disability, Mutation, Protein Structure, Tertiary, Protein Transport, Receptors, AMPA, Synapses, Two-Hybrid System Techniques, rab GTP-Binding Proteins, Transport protein, symbols, PICK1, Protein Structure, AMPA receptor, Neurotransmission, Biology, General Biochemistry, Genetics and Molecular Biology, Article, symbols.namesake, Endoplasmic reticulum, General Chemistry, Golgi apparatus, Molecular biology, Rab, Neuroscience, Tertiary

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdbf4042a21051bea890521ecf5eaef3
http://hdl.handle.net/2318/1795451

المؤلفون: Lidia Larizza, Alessandra Sirri, Jamel Chelly, Martine Raynaud, Veronica Bianchi, Salvatore Carrabino, Silvia Russo, Charles E. Schwartz, Hans-Hilger Ropers, Barbara Oehl-Jaschkowitz, Patrizia D'Adamo, Errico D'Elia, Hilde Van Esch, Francesca Cogliati, Jozef Gecz, Maria Lidia Mignogna, Daniela Toniolo, Cindy Skinner, Matteo Vecellio, Arjan P.M. de Brouwer, Maila Giannandrea, Vera M. Kalscheuer, Andreas Tzschach

المصدر: American Journal of Human Genetics, 86, 185-95
American Journal of Human Genetics, 86, 2, pp. 185-95

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Molecular Sequence Data, Population, Down-Regulation, Golgi Apparatus, GTPase, Biology, medicine.disease_cause, Article, Chromatin remodeling, Craniofacial Abnormalities, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Genetics, medicine, Animals, Humans, Genetics(clinical), Small GTPase, Autistic Disorder, RNA, Small Interfering, education, Gene, Genetics (clinical), Neurons, education.field_of_study, Mutation, Epilepsy, Base Sequence, Brain, Cell Differentiation, Stop codon, Pedigree, Protein Transport, Organ Specificity, rab GTP-Binding Proteins, Synapses, Mental Retardation, X-Linked, Female, Rab, HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a19244c6ad00f9f8c1d7270845760a