An allosteric MALT1 inhibitor is a molecular corrector rescuing function in an immunodeficient patient

J Quancard, T Klein, SY Fung, M Renatus… - Nature chemical …, 2019 - nature.com
J Quancard, T Klein, SY Fung, M Renatus, N Hughes, L Israël, JJ Priatel, S Kang, MA Blank…
Nature chemical biology, 2019nature.com
MALT1 paracaspase is central for lymphocyte antigen-dependent responses including NF-
κB activation. We discovered nanomolar, selective allosteric inhibitors of MALT1 that bind by
displacing the side chain of Trp580, locking the protease in an inactive conformation.
Interestingly, we had previously identified a patient homozygous for a MALT1 Trp580-to-
serine mutation who suffered from combined immunodeficiency. We show that the loss of
tryptophan weakened interactions between the paracaspase and C-terminal …
Abstract
MALT1 paracaspase is central for lymphocyte antigen-dependent responses including NF-κB activation. We discovered nanomolar, selective allosteric inhibitors of MALT1 that bind by displacing the side chain of Trp580, locking the protease in an inactive conformation. Interestingly, we had previously identified a patient homozygous for a MALT1 Trp580-to-serine mutation who suffered from combined immunodeficiency. We show that the loss of tryptophan weakened interactions between the paracaspase and C-terminal immunoglobulin MALT1 domains resulting in protein instability, reduced protein levels and functions. Upon binding of allosteric inhibitors of increasing potency, we found proportionate increased stabilization of MALT1-W580S to reach that of wild-type MALT1. With restored levels of stable MALT1 protein, the most potent of the allosteric inhibitors rescued NF-κB and JNK signaling in patient lymphocytes. Following compound washout, MALT1 substrate cleavage was partly recovered. Thus, a molecular corrector rescues an enzyme deficiency by substituting for the mutated residue, inspiring new potential precision therapies to increase mutant enzyme activity in other deficiencies.
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