Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis

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• 作者：Su Min Lim ; Won Jun Choi ; Ki-Wook Oh ; Yuanchao Xue…
• 关键词：Amyotrophic lateral sclerosis ; Fused in sarcoma ; Human cell models ; Induced neuron ; Nuclear localization signal ; Stress granules ; Neuronal cytoplasmic inclusion
• 刊名：Molecular Neurodegeneration
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：11
• 期：1
• 全文大小：3,346 KB
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• 作者单位：Su Min Lim (1) (2)
  Won Jun Choi (3)
  Ki-Wook Oh (2) (4)
  Yuanchao Xue (5)
  Ji Young Choi (2)
  Sung Hoon Kim (2)
  Minyeop Nahm (2)
  Young-Eun Kim (6)
  Jinhyuk Lee (7) (8)
  Min-Young Noh (2)
  Seungbok Lee (9)
  Sejin Hwang (10)
  Chang-Seok Ki (6)
  Xiang-Dong Fu (11)
  Seung Hyun Kim (1) (2) (4)
  
  1. Department of Translational Medicine, Graduate School of Biomedical Science and Engineering, Hanyang University, Seoul, 133-792, Republic of Korea
  2. Cell Therapy Center, Hanyang University Hospital, Seoul, 133-792, Republic of Korea
  3. Department of Neurology, Sheikh Khalifa Specialty Hospital, Ras Al Khaimah, United Arab Emirates
  4. Department of Neurology, College of Medicine, Hanyang University, Seoul, 133-792, Republic of Korea
  5. Key Laboratory of RNA Biology, Institute of Biophysics, Chinese Academy of Sciences, Beijing, 100101, China
  6. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 135-710, Republic of Korea
  7. Korean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, 305-806, Republic of Korea
  8. Department of Bioinformatics, University of Sciences and Technology, Daejeon, 305-806, Republic of Korea
  9. Department of Brain and Cognitive Sciences, College of Natural Sciences, Seoul National University, Seoul, 110-744, Republic of Korea
  10. Department of Anatomy and Cell Biology, College of Medicine, Hanyang University, Seoul, 133-792, Republic of Korea
  11. Department of Cellular Molecular Medicine, University of California, La Jolla, San Diego, CA, 92093, USA
  
• 刊物主题：Neurosciences; Neurology; Molecular Medicine;
• 出版者：BioMed Central
• ISSN：1750-1326

文摘

Background Mutations in the fused in sarcoma (FUS) gene have been linked to amyotrophic lateral sclerosis (ALS). ALS patients with FUS mutations exhibit neuronal cytoplasmic mislocalization of the mutant FUS protein. ALS patients’ fibroblasts or induced pluripotent stem cell (iPSC)-derived neurons have been developed as models for understanding ALS-associated FUS (ALS-FUS) pathology; however, pathological neuronal signatures are not sufficiently present in the fibroblasts of patients, whereas the generation of iPSC-derived neurons from ALS patients requires relatively intricate procedures.