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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Bibliografski detalji
Izdano u:Cells
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7407568/
https://ncbi.nlm.nih.gov/pubmed/32668765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells9071685
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