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Addendum

Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis

Su YangDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA

Xiao-Jiang LiDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA;State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, ChinaCorrespondence[email protected] [email protected]

Shihua LiDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USACorrespondence[email protected] [email protected]

Article: e1223580 | Received 10 Jun 2016, Accepted 05 Aug 2016, Published online: 30 Aug 2016

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https://doi.org/10.1080/21675511.2016.1223580
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Daniela Felício, Tanguy Rubat du Mérac, António Amorim & Sandra Martins. (2023) Functional implications of paralog genes in polyglutamine spinocerebellar ataxias. Human Genetics 142:12, pages 1651-1676.
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Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Janice Yip, Yamna Kriouile, Susann Diegmann, Steffi Dreha-Kulaczewski, Janine Altmüller, Holger Thiele, Peter Nürnberg, Mehran Beiraghi Toosi, Javad Akhondian, Ehsan Ghayoor Karimiani, Hannah Hummel-Abmeier, Brenda Huppke, Henry Houlden, Jutta Gärtner, Reza Maroofian & Peter Huppke. (2022) Mutations in TAF8 cause a neurodegenerative disorder . Brain 145:9, pages 3022-3034.
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Craig S. McIntosh, Dunhui Li, Steve D. Wilton & May T. Aung-Htut. (2021) Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies. Biomedicines 9:11, pages 1499.
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Karolina Świtońska-Kurkowska, Bart Krist, Joanna Delimata & Maciej Figiel. (2021) Juvenile Huntington’s Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data. Frontiers in Cell and Developmental Biology 9.
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Anna I. Wernick, Ronald L. Walton, Alexandra I. Soto-Beasley, Shunsuke Koga, Michael G. Heckman, Rebecca R. Valentino, Lukasz M. Milanowski, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Anhar Hassan, Ryan J. Uitti, William P. Cheshire, Wolfgang Singer, Zbigniew K. Wszolek, Dennis W. Dickson, Phillip A. Low & Owen A. Ross. (2021) Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clinical Autonomic Research 31:1, pages 117-125.
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José Fidel Baizabal-Carvallo & Francisco Cardoso. (2020) Chorea in children: etiology, diagnostic approach and management. Journal of Neural Transmission 127:10, pages 1323-1342.
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Chiung-Mei Chen, Wan-Ling Chen, Shu-Ting Yang, Te-Hsien Lin, Shu-Mei Yang, Wenwei Lin, Chih-Ying Chao, Yih-Ru Wu, Kuo-Hsuan Chang & Guey-Jen Lee-Chen. (2020) New Synthetic 3-Benzoyl-5-Hydroxy-2 H -Chromen-2-One (LM-031) Inhibits Polyglutamine Aggregation and Promotes Neurite Outgrowth through Enhancement of CREB, NRF2, and Reduction of AMPK α in SCA17 Cell Models . Oxidative Medicine and Cellular Longevity 2020, pages 1-17.
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Wei Jin, Talal Jamil Qazi, Zhenzhen Quan, Nuomin Li & Hong Qing. (2018) Dysregulation of Transcription Factors: A Key Culprit Behind Neurodegenerative Disorders. The Neuroscientist 25:6, pages 548-565.
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Thomas Klockgether, Caterina Mariotti & Henry L. Paulson. (2019) Spinocerebellar ataxia. Nature Reviews Disease Primers 5:1.
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Chiung-Mei Chen, Wan-Ling Chen, Chen-Ting Hung, Te-Hsien Lin, Ming-Chung Lee, I-Cheng Chen, Chih-Hsin Lin, Chih-Ying Chao, Yih-Ru Wu, Kuo-Hsuan Chang, Hsiu Mei Hsieh-Li & Guey-Jen Lee-Chen. (2019) Shaoyao Gancao Tang (SG-Tang), a formulated Chinese medicine, reduces aggregation and exerts neuroprotection in spinocerebellar ataxia type 17 (SCA17) cell and mouse models. Aging 11:3, pages 986-1007.
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Roisin Sullivan, Wai Yan Yau, Emer O’Connor & Henry Houlden. (2018) Spinocerebellar ataxia: an update. Journal of Neurology 266:2, pages 533-544.
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David D. Bushart & Vikram G. Shakkottai. (2019) Ion channel dysfunction in cerebellar ataxia. Neuroscience Letters 688, pages 41-48.
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Miaozhen Huang & Dineke S. Verbeek. (2019) Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?. Neuroscience Letters 688, pages 49-57.
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Jifeng Guo, Yiting Cui, Qiong Liu, Yang Yang, Yujing Li, Ling Weng, Beisha Tang, Peng Jin, Xiao-Jiang Li, Su Yang & Shihua Li. (2018) Piperine ameliorates SCA17 neuropathology by reducing ER stress. Molecular Neurodegeneration 13:1.
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Chiung-Mei Chen, Wan-Ling Chen, Chen-Ting Hung, Te-Hsien Lin, Chih-Ying Chao, Chih-Hsin Lin, Yih-Ru Wu, Kuo-Hsuan Chang, Ching-Fa Yao, Guey-Jen Lee-Chen, Ming-Tsan Su & Hsiu Mei Hsieh-Li. (2018) The indole compound NC009-1 inhibits aggregation and promotes neurite outgrowth through enhancement of HSPB1 in SCA17 cells and ameliorates the behavioral deficits in SCA17 mice. NeuroToxicology 67, pages 259-269.
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Henry L. Paulson, Vikram G. Shakkottai, H. Brent Clark & Harry T. Orr. (2017) Polyglutamine spinocerebellar ataxias — from genes to potential treatments. Nature Reviews Neuroscience 18:10, pages 613-626.
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Yang Yang, Su Yang, Jifeng Guo, Yiting Cui, Beisha Tang, Xiao-Jiang Li & Shihua Li. (2017) Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17. The Journal of Neuroscience 37:38, pages 9101-9115.
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Su Yang, Huiming Yang, Renbao Chang, Peng Yin, Yang Yang, Weili Yang, Shanshan Huang, Marta A. Gaertig, Shihua Li & Xiao-Jiang Li. (2017) MANF regulates hypothalamic control of food intake and body weight. Nature Communications 8:1.
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