Title : Genetic analysis of nucleotide-binding leucine-rich repeat (NLR) receptors in multiple sclerosis.

Pub. Date : 2020 Sep

PMID : 32529290






1 Functional Relationships(s)
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1 However, the identification of MS patients harboring rare homozygote variants in NLRP1 (p.Ile601Phe and p.Ser1387Ile), a variant in NLRP3 (p.Leu832Ile) resulting in the substitution of a critical amino acid for the formation of its leucine-rich repeat domain, and several MS patients with NLRC4 variants (p.Arg310Ter and p.Glu600Ter) causing protein truncations suggest that rare protein-altering variants in inflammasome-activating NLR receptors may contribute to MS risk. Leucine NLR family pyrin domain containing 3 Homo sapiens