CAPRIN1(P512L) causes aberrant protein aggregation and associates with early-onset ataxia

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 e...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499908/
https://www.ncbi.nlm.nih.gov/pubmed/36136249
http://dx.doi.org/10.1007/s00018-022-04544-3

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