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  1. AU="Kenney, Rakaia F"
  2. AU="Mazzini, Silvia"
  3. AU=MacDonald Vicki E
  4. AU="Yu, Fuli"
  5. AU=Xiang Fangfei
  6. AU="Negm, H. M."
  7. AU="Bloch, Stephen"
  8. AU="Arroyo, Alonso"
  9. AU="Duxbury, Darren"
  10. AU="Sahoo, Anusmita"
  11. AU="Ohnishi, Toshiyuki"
  12. AU="Engelhardt, John F"
  13. AU="Pike, J Wesley"
  14. AU="Heijdra Suasnabar, Jan M"
  15. AU="Galanaud, Damien"
  16. AU="Edmison, Anna"
  17. AU="Hall, Charles B"

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  1. Artikel ; Online: Evaluation of Na

    Martinowich, Keri / Das, Debamitra / Sripathy, Srinidhi Rao / Mai, Yishan / Kenney, Rakaia F / Maher, Brady J

    Molecular psychiatry

    2022  Band 28, Heft 1, Seite(n) 76–82

    Abstract: Pitt Hopkins Syndrome (PTHS) is a rare syndromic form of autism spectrum disorder (ASD) caused by autosomal dominant mutations in the Transcription Factor 4 (TCF4) gene. TCF4 is a basic helix-loop-helix transcription factor that is critical for ... ...

    Abstract Pitt Hopkins Syndrome (PTHS) is a rare syndromic form of autism spectrum disorder (ASD) caused by autosomal dominant mutations in the Transcription Factor 4 (TCF4) gene. TCF4 is a basic helix-loop-helix transcription factor that is critical for neurodevelopment and brain function through its binding to cis-regulatory elements of target genes. One potential therapeutic strategy for PTHS is to identify dysregulated target genes and normalize their dysfunction. Here, we propose that SCN10A is an important target gene of TCF4 that is an applicable therapeutic approach for PTHS. Scn10a encodes the voltage-gated sodium channel Na
    Mesh-Begriff(e) Animals ; Mice ; Autism Spectrum Disorder/drug therapy ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/metabolism ; Facies ; Hyperventilation/genetics ; Intellectual Disability/drug therapy ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Transcription Factor 4/genetics ; NAV1.8 Voltage-Gated Sodium Channel/chemistry ; NAV1.8 Voltage-Gated Sodium Channel/metabolism
    Chemische Substanzen Transcription Factor 4 ; Scn10a protein, mouse ; NAV1.8 Voltage-Gated Sodium Channel
    Sprache Englisch
    Erscheinungsdatum 2022-10-12
    Erscheinungsland England
    Dokumenttyp Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1330655-8
    ISSN 1476-5578 ; 1359-4184
    ISSN (online) 1476-5578
    ISSN 1359-4184
    DOI 10.1038/s41380-022-01811-4
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt-Hopkins syndrome.

    Bohlen, Joseph F / Cleary, Colin M / Das, Debamitra / Sripathy, Srinidhi Rao / Sadowski, Norah / Shim, Gina / Kenney, Rakaia F / Buchler, Ingrid P / Banerji, Tapasree / Scanlan, Thomas S / Mulkey, Daniel K / Maher, Brady J

    Brain : a journal of neurology

    2023  Band 146, Heft 8, Seite(n) 3331–3346

    Abstract: Pitt-Hopkins syndrome is an autism spectrum disorder caused by autosomal dominant mutations in the human transcription factor 4 gene (TCF4). One pathobiological process caused by murine Tcf4 mutation is a cell autonomous reduction in oligodendrocytes and ...

    Abstract Pitt-Hopkins syndrome is an autism spectrum disorder caused by autosomal dominant mutations in the human transcription factor 4 gene (TCF4). One pathobiological process caused by murine Tcf4 mutation is a cell autonomous reduction in oligodendrocytes and myelination. In this study, we show that the promyelinating compounds, clemastine, sobetirome and Sob-AM2 are effective at restoring myelination defects in a Pitt-Hopkins syndrome mouse model. In vitro, clemastine treatment reduced excess oligodendrocyte precursor cells and normalized oligodendrocyte density. In vivo, 2-week intraperitoneal administration of clemastine also normalized oligodendrocyte precursor cell and oligodendrocyte density in the cortex of Tcf4 mutant mice and appeared to increase the number of axons undergoing myelination, as EM imaging of the corpus callosum showed a significant increase in the proportion of uncompacted myelin and an overall reduction in the g-ratio. Importantly, this treatment paradigm resulted in functional rescue by improving electrophysiology and behaviour. To confirm behavioural rescue was achieved via enhancing myelination, we show that treatment with the thyroid hormone receptor agonist sobetirome or its brain penetrating prodrug Sob-AM2, was also effective at normalizing oligodendrocyte precursor cell and oligodendrocyte densities and behaviour in the Pitt-Hopkins syndrome mouse model. Together, these results provide preclinical evidence that promyelinating therapies may be beneficial in Pitt-Hopkins syndrome and potentially other neurodevelopmental disorders characterized by dysmyelination.
    Mesh-Begriff(e) Humans ; Animals ; Mice ; Clemastine ; Autism Spectrum Disorder/drug therapy ; Autism Spectrum Disorder/genetics ; Pharmaceutical Preparations ; Intellectual Disability/drug therapy ; Intellectual Disability/genetics
    Chemische Substanzen GC 1 compound ; Clemastine (95QN29S1ID) ; Pharmaceutical Preparations
    Sprache Englisch
    Erscheinungsdatum 2023-05-09
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awad057
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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