Article

Molecular basis of Salla Disease: R39C Mutation Effects on the Lysosomal Transporter Sialin

2026-04-22

Abstract excerpt

Salla disease is caused by a genetic mutation in sialin, a lysosomal membrane transporter, which exports sialic acid from lysosomes. Substrate translocation occurs via a rocker-switch mechanism that alternately exposes the substrate-binding site to the lysosomal lumen and the cytosol. The pathogenic mutation R39C found in most Salla disease patients decreases the lysosomal localisation and the transport activity....

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Literature Corpus work: 7d9dde50-8649-5c7b-8176-17d1c6a9bbe4
DOI: 10.64898/2026.04.20.719580

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