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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome

Abstract Background TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental retardation, certain features of facial dysmorphi...

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Autores principales: Celine Chiu, Alma Küchler, Christel Depienne, Corinna Preuße, Adela Della Marina, Andre Reis, Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel, Andreas Roos
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2024-07-01
Colección:Skeletal Muscle
Materias:
Pitt Hopkins syndrome
TCF4
Muscle
Myogenesis
Muscle proteomics
Acceso en línea:https://doi.org/10.1186/s13395-024-00348-0
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