BiochemistrybioRxivPreprint
Moyamoya Disease-Associated RNF213 Alleles Encode Dominant Negative Alleles That Globally Impair Ubiquitylation
A. Bhardwaj, R. S. Banh, W. Zhang…·B. G. Neel
This study identifies MMD-associated RNF213 SNPs as dominant negative alleles that impair ubiquitylation, suggesting reduced E3-ligase activity as central to MMD pathogenesis.
DOI 10.1101/2020.05.24.113795