CAPRIN1P512L 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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Veröffentlicht in:	Cellular and molecular life sciences : CMLS 2022-10, Vol.79 (10), p.526-526, Article 526
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Agglomeration Ataxia Autism Binding sites Biochemistry Biomedical and Life Sciences Biomedicine Cell Biology Cell cycle Cloning Cognitive ability CRISPR Fluorimetry Genetics Hospitals Life Sciences Muscles Mutagenesis Mutation Neurodegeneration Neurodegenerative diseases Original Original Article Phase transitions Protein interaction Proteins Rare diseases Residues Ribonucleic acid RNA Spectrum analysis Synaptic plasticity
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