LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 6 of total 6

Search options

  1. Article ; Online: Deconstructing Sox2 Function in Brain Development and Disease.

    Mercurio, Sara / Serra, Linda / Pagin, Miriam / Nicolis, Silvia K

    Cells

    2022  Volume 11, Issue 10

    Abstract: SOX2 is a transcription factor conserved throughout vertebrate evolution, whose expression marks the central nervous system from the earliest developmental stages. In humans, ...

    Abstract SOX2 is a transcription factor conserved throughout vertebrate evolution, whose expression marks the central nervous system from the earliest developmental stages. In humans,
    MeSH term(s) Animals ; Brain/metabolism ; Central Nervous System/metabolism ; Humans ; Mice ; Neural Stem Cells/metabolism ; Neuroglia/metabolism ; SOXB1 Transcription Factors/genetics ; SOXB1 Transcription Factors/metabolism ; Transcription Factors/metabolism
    Chemical Substances SOX2 protein, human ; SOXB1 Transcription Factors ; Sox2 protein, mouse ; Transcription Factors
    Language English
    Publishing date 2022-05-10
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells11101604
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: More than just Stem Cells: Functional Roles of the Transcription Factor Sox2 in Differentiated Glia and Neurons.

    Mercurio, Sara / Serra, Linda / Nicolis, Silvia K

    International journal of molecular sciences

    2019  Volume 20, Issue 18

    Abstract: The Sox2 transcription factor, encoded by a gene conserved in animal evolution, has become widely known because of its functional relevance for stem cells. In the developing nervous system, Sox2 is active in neural stem cells, and important for their ... ...

    Abstract The Sox2 transcription factor, encoded by a gene conserved in animal evolution, has become widely known because of its functional relevance for stem cells. In the developing nervous system, Sox2 is active in neural stem cells, and important for their self-renewal; differentiation to neurons and glia normally involves Sox2 downregulation. Recent evidence, however, identified specific types of fully differentiated neurons and glia that retain high Sox2 expression, and critically require Sox2 function, as revealed by functional studies in mouse and in other animals. Sox2 was found to control fundamental aspects of the biology of these cells, such as the development of correct neuronal connectivity. Sox2 downstream target genes identified within these cell types provide molecular mechanisms for cell-type-specific Sox2 neuronal and glial functions. SOX2 mutations in humans lead to a spectrum of nervous system defects, involving vision, movement control, and cognition; the identification of neurons and glia requiring Sox2 function, and the investigation of Sox2 roles and molecular targets within them, represents a novel perspective for the understanding of the pathogenesis of these defects.
    MeSH term(s) Animals ; Cell Differentiation ; Cell Self Renewal ; Down-Regulation ; Humans ; Mice ; Mutation ; Neural Stem Cells/cytology ; Neural Stem Cells/metabolism ; Neurogenesis ; Neuroglia/cytology ; Neuroglia/metabolism ; SOXB1 Transcription Factors/genetics ; SOXB1 Transcription Factors/metabolism ; Signal Transduction
    Chemical Substances SOX2 protein, human ; SOXB1 Transcription Factors
    Language English
    Publishing date 2019-09-13
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms20184540
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: An early Sox2-dependent gene expression programme required for hippocampal dentate gyrus development.

    Mercurio, Sara / Alberti, Chiara / Serra, Linda / Meneghini, Simone / Berico, Pietro / Bertolini, Jessica / Becchetti, Andrea / Nicolis, Silvia K

    Open biology

    2021  Volume 11, Issue 2, Page(s) 200339

    Abstract: The hippocampus is a brain area central for cognition. Mutations in the human SOX2 transcription factor cause neurodevelopmental defects, leading to intellectual disability and seizures, together with hippocampal dysplasia. We generated an allelic series ...

    Abstract The hippocampus is a brain area central for cognition. Mutations in the human SOX2 transcription factor cause neurodevelopmental defects, leading to intellectual disability and seizures, together with hippocampal dysplasia. We generated an allelic series of Sox2 conditional mutations in mouse, deleting Sox2 at different developmental stages. Late Sox2 deletion (from E11.5, via Nestin-Cre) affects only postnatal hippocampal development; earlier deletion (from E10.5, Emx1-Cre) significantly reduces the dentate gyrus (DG), and the earliest deletion (from E9.5, FoxG1-Cre) causes drastic abnormalities, with almost complete absence of the DG. We identify a set of functionally interconnected genes (Gli3, Wnt3a, Cxcr4, p73 and Tbr2), known to play essential roles in hippocampal embryogenesis, which are downregulated in early Sox2 mutants, and (Gli3 and Cxcr4) directly controlled by SOX2; their downregulation provides plausible molecular mechanisms contributing to the defect. Electrophysiological studies of the Emx1-Cre mouse model reveal altered excitatory transmission in CA1 and CA3 regions.
    MeSH term(s) Action Potentials ; Animals ; Cell Line, Tumor ; Dentate Gyrus/cytology ; Dentate Gyrus/embryology ; Dentate Gyrus/metabolism ; Gene Expression Regulation, Developmental ; Mice ; Mice, Inbred C57BL ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Neurons/cytology ; Neurons/metabolism ; Neurons/physiology ; Receptors, CXCR4/genetics ; Receptors, CXCR4/metabolism ; SOXB1 Transcription Factors/genetics ; SOXB1 Transcription Factors/metabolism ; T-Box Domain Proteins/genetics ; T-Box Domain Proteins/metabolism ; Tumor Protein p73/genetics ; Tumor Protein p73/metabolism ; Wnt3A Protein/genetics ; Wnt3A Protein/metabolism ; Zinc Finger Protein Gli3/genetics ; Zinc Finger Protein Gli3/metabolism
    Chemical Substances CXCR4 protein, mouse ; Eomes protein, mouse ; Gli3 protein, mouse ; Nerve Tissue Proteins ; Receptors, CXCR4 ; SOXB1 Transcription Factors ; Sox2 protein, mouse ; T-Box Domain Proteins ; Tumor Protein p73 ; Wnt3A Protein ; Wnt3a protein, mouse ; Zinc Finger Protein Gli3
    Language English
    Publishing date 2021-02-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2630944-0
    ISSN 2046-2441 ; 2046-2441
    ISSN (online) 2046-2441
    ISSN 2046-2441
    DOI 10.1098/rsob.200339
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome.

    Valassina, Nicholas / Brusco, Simone / Salamone, Alessia / Serra, Linda / Luoni, Mirko / Giannelli, Serena / Bido, Simone / Massimino, Luca / Ungaro, Federica / Mazzara, Pietro Giuseppe / D'Adamo, Patrizia / Lignani, Gabriele / Broccoli, Vania / Colasante, Gaia

    Nature communications

    2022  Volume 13, Issue 1, Page(s) 161

    Abstract: Dravet syndrome is a severe epileptic encephalopathy caused primarily by haploinsufficiency of the SCN1A gene. Repetitive seizures can lead to endurable and untreatable neurological deficits. Whether this severe pathology is reversible after symptom ... ...

    Abstract Dravet syndrome is a severe epileptic encephalopathy caused primarily by haploinsufficiency of the SCN1A gene. Repetitive seizures can lead to endurable and untreatable neurological deficits. Whether this severe pathology is reversible after symptom onset remains unknown. To address this question, we generated a Scn1a conditional knock-in mouse model (Scn1a
    MeSH term(s) Action Potentials/physiology ; Animals ; Cerebellum/metabolism ; Cerebellum/physiopathology ; Cerebral Cortex/metabolism ; Cerebral Cortex/physiopathology ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/metabolism ; Cognitive Dysfunction/physiopathology ; Cognitive Dysfunction/prevention & control ; Corpus Striatum/metabolism ; Corpus Striatum/physiopathology ; Dependovirus/genetics ; Dependovirus/metabolism ; Disease Models, Animal ; Epilepsies, Myoclonic/genetics ; Epilepsies, Myoclonic/metabolism ; Epilepsies, Myoclonic/physiopathology ; Epilepsies, Myoclonic/prevention & control ; Gene Knock-In Techniques ; Genetic Therapy/methods ; Hippocampus/metabolism ; Hippocampus/physiopathology ; Humans ; Interneurons/metabolism ; Interneurons/pathology ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; NAV1.1 Voltage-Gated Sodium Channel/deficiency ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Sudden Unexpected Death in Epilepsy/pathology ; Sudden Unexpected Death in Epilepsy/prevention & control
    Chemical Substances NAV1.1 Voltage-Gated Sodium Channel ; Scn1a protein, mouse
    Language English
    Publishing date 2022-01-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-021-27837-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome.

    Bertacchi, Michele / Gruart, Agnès / Kaimakis, Polynikis / Allet, Cécile / Serra, Linda / Giacobini, Paolo / Delgado-García, José M / Bovolenta, Paola / Studer, Michèle

    EMBO molecular medicine

    2019  Volume 11, Issue 8, Page(s) e10291

    Abstract: Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch-Boonstra-Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused ...

    Abstract Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch-Boonstra-Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused by mutations or deletions in the NR2F1 gene. Herein, we describe a mouse model recapitulating key features of BBSOA patients-optic nerve atrophy, optic disc anomalies, and visual deficits-thus representing the only available mouse model for this syndrome. Notably, Nr2f1-deficient optic nerves develop an imbalance between oligodendrocytes and astrocytes leading to postnatal hypomyelination and astrogliosis. Adult heterozygous mice display a slower optic axonal conduction velocity from the retina to high-order visual centers together with associative visual learning deficits. Importantly, some of these clinical features, such the optic nerve hypomyelination, could be rescued by chemical drug treatment in early postnatal life. Overall, our data shed new insights into the cellular mechanisms of optic nerve atrophy in BBSOA patients and open a promising avenue for future therapeutic approaches.
    MeSH term(s) Animals ; Astrocytes/metabolism ; Astrocytes/ultrastructure ; Behavior, Animal ; COUP Transcription Factor I/deficiency ; COUP Transcription Factor I/genetics ; Disease Models, Animal ; Genetic Predisposition to Disease ; Haploinsufficiency ; Heterozygote ; Humans ; Learning ; Mice, Knockout ; Miconazole/pharmacology ; Nerve Fibers, Myelinated/drug effects ; Nerve Fibers, Myelinated/metabolism ; Nerve Fibers, Myelinated/ultrastructure ; Neural Conduction ; Oligodendroglia/metabolism ; Oligodendroglia/ultrastructure ; Optic Atrophy, Autosomal Dominant/drug therapy ; Optic Atrophy, Autosomal Dominant/genetics ; Optic Atrophy, Autosomal Dominant/metabolism ; Optic Atrophy, Autosomal Dominant/pathology ; Optic Nerve/drug effects ; Optic Nerve/metabolism ; Optic Nerve/ultrastructure ; Visual Perception
    Chemical Substances COUP Transcription Factor I ; NR2F1 protein, human ; Nr2f1 protein, mouse ; Miconazole (7NNO0D7S5M)
    Language English
    Publishing date 2019-07-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2467145-9
    ISSN 1757-4684 ; 1757-4676
    ISSN (online) 1757-4684
    ISSN 1757-4676
    DOI 10.15252/emmm.201910291
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6784: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: Sox2 Acts in Thalamic Neurons to Control the Development of Retina-Thalamus-Cortex Connectivity.

    Mercurio, Sara / Serra, Linda / Motta, Alessia / Gesuita, Lorenzo / Sanchez-Arrones, Luisa / Inverardi, Francesca / Foglio, Benedetta / Barone, Cristiana / Kaimakis, Polynikis / Martynoga, Ben / Ottolenghi, Sergio / Studer, Michèle / Guillemot, Francois / Frassoni, Carolina / Bovolenta, Paola / Nicolis, Silvia K

    iScience

    2019  Volume 15, Page(s) 257–273

    Abstract: Visual system development involves the formation of neuronal projections connecting the retina to the thalamic dorso-lateral geniculate nucleus (dLGN) and the thalamus to the visual cerebral cortex. Patients carrying mutations in the SOX2 transcription ... ...

    Abstract Visual system development involves the formation of neuronal projections connecting the retina to the thalamic dorso-lateral geniculate nucleus (dLGN) and the thalamus to the visual cerebral cortex. Patients carrying mutations in the SOX2 transcription factor gene present severe visual defects, thought to be linked to SOX2 functions in the retina. We show that Sox2 is strongly expressed in mouse postmitotic thalamic projection neurons. Cre-mediated deletion of Sox2 in these neurons causes reduction of the dLGN, abnormal distribution of retino-thalamic and thalamo-cortical projections, and secondary defects in cortical patterning. Reduced expression, in mutants, of Sox2 target genes encoding ephrin-A5 and the serotonin transport molecules SERT and vMAT2 (important for establishment of thalamic connectivity) likely provides a molecular contribution to these defects. These findings unveil thalamic SOX2 function as a novel regulator of visual system development and a plausible additional cause of brain-linked genetic blindness in humans.
    Language English
    Publishing date 2019-04-26
    Publishing country United States
    Document type Journal Article
    ISSN 2589-0042
    ISSN (online) 2589-0042
    DOI 10.1016/j.isci.2019.04.030
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top