Article
Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.
Immunogenetics - 1 Mar 2018
Bernales Cecily Q, Encarnacion Mary, Criscuoli Maria G, Yee Irene M, Traboulsee Anthony L, Sadovnick A Dessa, Vilariño-Güell Carles
Abstract excerpt
The implementation of exome sequencing technologies has started to unravel the genetic etiology of familial multiple sclerosis (MS). A homozygote p.G587S mutation in NLRP1 has been suggested as potentially causative for the onset of MS in an affected sibling pair, who later developed malignant melanoma. To validate the proposed role of recessive NLRP1 mutations in the pathological mechanisms of MS, we examined...
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