Ami M. Perri

TL;DR: It is concluded that laforin's principle function is to control glycogen chain lengths, in a malin‐dependent fashion, and that loss of this control underlies LD.

TL;DR: Information theory (IT) is applied to predict and prioritize noncoding variants of uncertain significance in regulatory, coding, and intronic regions based on changes in binding sites in these genes.

TL;DR: The separation of soluble and insoluble muscle glycogen is described, enabling separate analysis of each fraction and demonstrating that hyperphosphorylation is not a basic feature of insoluble glycogen.

TL;DR: A strategy for complete gene sequence analysis followed by a unified framework for interpreting non-coding variants that may affect gene expression is presented and large numbers of variants detected by NGS are distilled to a limited set of variants prioritized as potential deleterious changes.

TL;DR: The study shows that Gys1 knockdown is a powerful means to prevent LD progression, but this approach did not reduce brain glycogen or LBs to levels below those at the time of intervention, which suggests that endogenous mechanisms to clear brain LBs are absent or, possibly, compromised in laforin-deficient murine LD.