THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation
H. Dehaene, V. Praz, P. Lhote, M. Lopes, W. Herr
The paper investigates THAP11 functions in gene expression and cell proliferation, showing that the THAP11F80L mutation causes altered gene expression and reduced MMACHC transcription, linking it to cobalamin disorder.
bioRxiv · Oct 21, 2019Cell Biology