Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration

KMT2D encodes a methyltransferase responsible for histone 3 lysine 4 (H3K4) mono-/di-methylation, an epigenetic mark correlated with active transcription. Here, we tested the hypothesis that KMT2D pathogenic loss-of-function variants, which causes the Kabuki syndrome type 1, could affect the mitocho...

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Detalles Bibliográficos
Autores principales: Pacelli, Consiglia, Adipietro, Iolanda, Malerba, Natascia, Squeo, Gabriella Maria, Piccoli, Claudia, Amoresano, Angela, Pinto, Gabriella, Pucci, Pietro, Lee, Ji-Eun, Ge, Kai, Capitanio, Nazzareno, Merla, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7407568/
https://www.ncbi.nlm.nih.gov/pubmed/32668765
http://dx.doi.org/10.3390/cells9071685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7407568/
https://www.ncbi.nlm.nih.gov/pubmed/32668765
http://dx.doi.org/10.3390/cells9071685

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