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

Disease models & mechanisms - 1 Sept 2023

Ütkür Koray, Mayer Klaus, Khan Maliha, Manivannan Thirishika, Schaffrath Raffael, Brinkmann Ulrich

Abstract excerpt

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 factor 2. Diphthamide synthesis requires seven proteins (DPH1-DPH7), with clinical deficiency described for DPH1, DPH2...

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PMID: 37675463
DOI: 10.1242/dmm.050207
PMCID: PMC10538292

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