Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome

Mutations in genes encoding for histone methylation proteins are associated with several developmental disorders. Among them, KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease. While nonsense mutations and short insertions/deletions are known to trigger pathog...

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Detalles Bibliográficos
Autores principales: Petrizzelli, Francesco, Biagini, Tommaso, Barbieri, Alessandro, Parca, Luca, Panzironi, Noemi, Castellana, Stefano, Caputo, Viviana, Vescovi, Angelo Luigi, Carella, Massimo, Mazza, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7412721/
https://www.ncbi.nlm.nih.gov/pubmed/32802275
http://dx.doi.org/10.1016/j.csbj.2020.07.013

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