Article

Moyamoya Disease-Associated <i>RNF213</i> Alleles Encode Dominant Negative Alleles That Globally Impair Ubiquitylation

2020-05-26

Abstract excerpt

Single nucleotide polymorphisms (SNPs) in RNF213 , which encodes a 591kDa protein with AAA+ ATPase and RING E3 domains, are associated with a rare, autosomal dominant cerebrovascular disorder, Moyamoya disease (MMD). MMD-associated SNPs primarily localize to the C-terminal region of RNF213, and some affect conserved residues in the RING domain. Although the autosomal dominant inheritance of MMD could most easily...

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Literature Corpus work: 16c04a9f-5bfc-50e4-8350-3170662bbd2d
DOI: 10.1101/2020.05.24.113795

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