Cargando…
Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia
Transcription factor 4 (TCF4) is a basic helix-loop-helix transcription factor essential for neurocognitive development. The aberrations in TCF4 are associated with neurodevelopmental disorders including schizophrenia, intellectual disability, and Pitt-Hopkins syndrome, an autism-spectrum disorder c...
Autores principales: | Sirp, Alex, Roots, Kaisa, Nurm, Kaja, Tuvikene, Jürgen, Sepp, Mari, Timmusk, Tõnis |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8648840/ https://www.ncbi.nlm.nih.gov/pubmed/34748727 http://dx.doi.org/10.1016/j.jbc.2021.101381 |
Ejemplares similares
-
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless
por: Tamberg, Laura, et al.
Publicado: (2015) -
The Fuchs corneal dystrophy-associated CTG repeat expansion in the TCF4 gene affects transcription from its alternative promoters
por: Sirp, Alex, et al.
Publicado: (2020) -
Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
por: Tamberg, Laura, et al.
Publicado: (2020) -
Isoform-Specific Reduction of the Basic Helix-Loop-Helix Transcription Factor TCF4 Levels in Huntington’s Disease
por: Nurm, Kaja, et al.
Publicado: (2021) -
Pitt–Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription
por: Sweatt, J David
Publicado: (2013)