CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity

INTRODUCTION: The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are hexanucleotide repeats in chromosome 9 open reading frame 72 (C9orf72). These repeats produce dipeptide repeat proteins with poly(PR) being the most toxic one. METHODS: We perform...

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Veröffentlicht in:ALZHEIMERS & DEMENTIA 2023-04, Vol.19 (4), p.1245-1259
Hauptverfasser: Guo, Wenting, Wang, Haibo, Tharkeshwar, Arun Kumar, Couthouis, Julien, Braems, Elke, Masrori, Pegah, Van Schoor, Evelien, Fan, Yannan, Ahuja, Karan, Moisse, Matthieu, Jacquemyn, Maarten, da Costa, Rodrigo Furtado Madeiro, Gajjar, Madhavsai, Balusu, Sriram, Tricot, Tine, Fumagalli, Laura, Hersmus, Nicole, Janky, Rekin's, Impens, Francis, Vanden Berghe, Pieter, Ho, Ritchie, Thal, Dietmar Rudolf, Vandenberghe, Rik, Hegde, Muralidhar L, Chandran, Siddharthan, De Strooper, Bart, Daelemans, Dirk, Van Damme, Philip, Van den Bosch, Ludo, Verfaillie, Catherine
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Sprache:eng
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