Saturday, 17 July 2021

When mad AIOLOS drags IKAROS down: A novel pathogenic mechanism

Researchers have described a novel primary immunodeficiency due to a mutation in AIOLOS. This acts through a novel pathogenic mechanism termed 'heterodimeric interference', whereby when two different proteins bind together in a heterodimer, the mutant protein hijacks the function of the normal protein. In a mouse model, they were able to restore some of the lost functions by interfering with the mutated protein, suggesting a possible therapeutic approach to disorders of this nature.

source https://www.sciencedaily.com/releases/2021/07/210716112503.htm
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