Article
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Cellular and molecular life sciences : CMLS - 22 Sept 2022
Delle Vedove Andrea, Natarajan Janani, Zanni Ginevra, Eckenweiler Matthias, Muiños-Bühl Anixa, Storbeck Markus, Guillén Boixet Jordina, Barresi Sabina, Pizzi Simone, Hölker Irmgard, Körber Friederike, Franzmann Titus M, Bertini Enrico S, Kirschner Janbernd, Alberti Simon, Tartaglia Marco, Wirth Brunhilde
Abstract excerpt
CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated children, who developed early-onset ataxia, dysarthria, cognitive decline and muscle weakness. Trio exome sequencing unraveled the identical de novo c.1535C > T (p.Pro512Leu) missense variant in CAPRIN1, affecting a...
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