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

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CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity
Alzheimer's & Dementia ( IF 14.0 ) Pub Date : 2022-08-22 , DOI: 10.1002/alz.12760
Wenting Guo _{1,

2,

3} , Haibo Wang _{4,

5} , Arun Kumar Tharkeshwar _{2,

3} , Julien Couthouis ₆ , Elke Braems _{2,

3} , Pegah Masrori _{2,

3,

7} , Evelien Van Schoor _{2,

3,

8} , Yannan Fan ₁ , Karan Ahuja ₁ , Matthieu Moisse _{2,

3} , Maarten Jacquemyn ₉ , Rodrigo Furtado Madeiro da Costa ₁ , Madhavsai Gajjar ₁ , Sriram Balusu ₃ , Tine Tricot ₁ , Laura Fumagalli _{2,

3} , Nicole Hersmus _{2,

3} , Rekin's Janky ₁₀ , Francis Impens _{11,

12,

13} , Pieter Vanden Berghe ₁₄ , Ritchie Ho ₁₅ , Dietmar Rudolf Thal ₈ , Rik Vandenberghe _{7,

16} , Muralidhar L Hegde _{4,

5} , Siddharthan Chandran _{17,

18} , Bart De Strooper _{3,

17} , Dirk Daelemans ₉ , Philip Van Damme _{2,

3,

7} , Ludo Van Den Bosch _{2,

3} , Catherine Verfaillie ₁

Affiliation

Stem Cell Institute, Department of Devolpment and Regeneration, KU Leuven, Leuven, Belgium.
Department of Neurosciences, Experimental Neurology, Laboratory of Neurobiology, KU Leuven-University of Leuven, Leuven, Belgium.
VIB, Center for Brain & Disease Research, Leuven, Belgium and Leuven Brain Institute (LBI), Leuven, Belgium.
Division of DNA Repair Research, Department of Neurosurgery, Center for Neuroregeneration, Houston Methodist Research Institute, Houston, Texas, USA.
Department of Neuroscience Research at Neurological Surgery, Weill Medical College, New York, New York, USA.
Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
Laboratory of Neuropathology, Department of Imaging and Pathology, KU Leuven, and Leuven Brain Institute (LBI), Leuven, Belgium.
KU Leuven Department of Microbiology, Immunology and Transplantation, Laboratory of Virology and Chemotherapy, Rega Institute for Medical Research, Leuven, Belgium.
VIB Nucleomics Core, Leuven, Belgium.
VIB-UGent Center for Medical Biotechnology, Ghent, Belgium.
Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
VIB Proteomics Core, Ghent, Belgium.
Translational Research Centre for Gastrointestinal Disorders (TARGID), KU Leuven-University of Leuven, Leuven, Belgium.
Center for Neural Science and Medicine, Board of Governors Regenerative Medicine Institute, Departments of Biomedical Sciences and Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.
KU Leuven-Laboratory for Cognitive Neurology, Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.
UK-Dementia Research Institute at University College London, London, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.

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.

中文翻译：

人类 iPSC 衍生的皮层神经元中的 CRISPR/Cas9 筛选将 NEK6 鉴定为 C9orf72 聚（PR）毒性的新型疾病调节剂

额颞叶痴呆 (FTD) 和肌萎缩侧索硬化 (ALS) 最常见的遗传原因是 9 号染色体开放阅读框 72 ( C9orf72)中的六核苷酸重复序列。这些重复产生二肽重复蛋白，聚 (PR) 是毒性最强的蛋白。

更新日期：2022-08-22

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