DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models

The autosomal-recessive diphthamide deficiency syndrome presents as intellectual disability with developmental abnormalities, seizures, craniofacial and additional morphological phenotypes. It is caused by reduced activity of proteins that synthesize diphthamide on human translation elongation facto...

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Detalles Bibliográficos
Autores principales: Ütkür, Koray, Mayer, Klaus, Khan, Maliha, Manivannan, Thirishika, Schaffrath, Raffael, Brinkmann, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538292/
https://www.ncbi.nlm.nih.gov/pubmed/37675463
http://dx.doi.org/10.1242/dmm.050207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538292/
https://www.ncbi.nlm.nih.gov/pubmed/37675463
http://dx.doi.org/10.1242/dmm.050207

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