| 概要 |
Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is a novel early-onset disorder caused by the gain-of-function mutation in CAPRIN1. 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.
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| 著者 |
Delle Vedove A, Natarajan J, Zanni G, Eckenweiler M, Muinos-Buhl A, Storbeck M, Guillen Boixet J, Barresi S, Pizzi S, Holker I, Korber F, Franzmann TM, Bertini ES, Kirschner J, Alberti S, Tartaglia M, Wirth B |
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