The endocytic receptor SORL1 has come to fruition both literally and figuratively. An interactive diagram of the 2,214 amino acid behemoth—filled with findings about hundreds of rare variants—is live for viewing on the Alzforum Mutations database. A handful of fresh studies point to rare missense mutations in the gene as root causes for Alzheimer’s disease. The findings cast SORL1 as an important familial AD gene, and offer clinicians tools to screen for the most damaging variants. Shout-outs to Olav Andersen, Henne Holstege, and the Alzforum database team.
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Hundreds of SORL1 Variants Mapped in Alzforum Database; SORL1 Cast as Causal AD Gene
Sorting Out SORL1: 500+ Mutations Mapped, Prioritized in Alzforum Dataset
Make way, APP, PS1, PS2. A fourth gene, SORL1, is joining you on the podium of infamy. For years, researchers have steadily built the case that SORL1 is the fourth familial, sometimes even autosomal-dominant, Alzheimer’s disease gene. Now, a cul...
When Missense Variants Derail SORL1 Traffic, Destination Is Dementia
With its 2,214 amino acids and its dynamic lifestyle as an endosomal recycling receptor, SORL1 is rife with opportunities for mutations that could thwart its function. The size and splendor of this endosomal receptor is on display in Alzforum’s ...