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Observing that the D96N variant of Mal/TIRAP, a naturally occurring non-synonymous SNP in this TLR adaptor molecule occurring in 1% of Caucasians, failed to induce NF-kB signalling, we explored the reason for this loss of function. Mal is usually required to recruit MyD88, another signalling adaptor, to the plasma membrane (Kagan et al 2006). Using confocal microscopy in fixed (left) and live (right) HEK and Huh-7 cells, we discovered that Mal D96N fails to redistribute MyD88 from cytoplasmic foci across the cell. We are currently trying to determine whether D96N is associated with disease in humans using epidemiological approaches together with our collaborators.

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