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Select item 105421691.

Phenotypic defects from the expression of wild-type and pathogenic TATA-binding proteins in new Drosophila models of Spinocerebellar Ataxia Type 17

Nikhil Patel, Nadir Alam, Kozeta Libohova, Ryan Dulay, Sokol V Todi, Alyson Sujkowski

G3 (Bethesda) 2023 Oct; 13(10): jkad180. Published online 2023 Aug 8. doi: 10.1093/g3journal/jkad180

PMCID:: PMC10542169

Article PDF–1.3M

Select item 101606842.

Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy

Apisit Boongird, Pichet Termsarasab, Teeratorn Pulkes

eNeurologicalSci. 2023 Jun; 31: 100463. Published online 2023 Apr 15. doi: 10.1016/j.ensci.2023.100463

PMCID:: PMC10160684

Article PDF–3.1M

Select item 97278563.

Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient

Rie Saito, Yui Tada, Daisuke Oikawa, Yusuke Sato, Makiko Seto, Akira Satoh, Kodai Kume, Nozomi Ueki, Masahiro Nakashima, Shintaro Hayashi, Yasuko Toyoshima, Fuminori Tokunaga, Hideshi Kawakami, Akiyoshi Kakita

Acta Neuropathol Commun. 2022; 10: 177. Published online 2022 Dec 7. doi: 10.1186/s40478-022-01486-6

PMCID:: PMC9727856

Article PDF–1.6M

Select item 96042784.

Quantitative NMR-Based Lipoprotein Analysis Identifies Elevated HDL-4 and Triglycerides in the Serum of Alzheimer’s Disease Patients

Georgy Berezhnoy, Christoph Laske, Christoph Trautwein

Int J Mol Sci. 2022 Oct; 23(20): 12472. Published online 2022 Oct 18. doi: 10.3390/ijms232012472

PMCID:: PMC9604278

Article PDF–4.7M

Select item 90507665.

Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17

Jonasz Jeremiasz Weber, Stefanie Cari Anger, Priscila Pereira Sena, Rana Dilara Incebacak Eltemur, Chrisovalantou Huridou, Florian Fath, Caspar Gross, Nicolas Casadei, Olaf Riess, Huu Phuc Nguyen

Cell Mol Life Sci. 2022; 79(5): 262. Published online 2022 Apr 28. doi: 10.1007/s00018-022-04274-6

PMCID:: PMC9050766

Article PDF–5.5M

Select item 71956406.

New Synthetic 3-Benzoyl-5-Hydroxy-2H-Chromen-2-One (LM-031) Inhibits Polyglutamine Aggregation and Promotes Neurite Outgrowth through Enhancement of CREB, NRF2, and Reduction of AMPKα in SCA17 Cell Models

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

Oxid Med Cell Longev. 2020; 2020: 3129497. Published online 2020 Apr 22. doi: 10.1155/2020/3129497

PMCID:: PMC7195640

Article PDF–3.3M

Select item 67448137.

Self-Injurious Behaviour in SCA17: A New Clinical Observation

Roberta Bonomo, Anna Latorre, Kailash P Bhatia

Tremor Other Hyperkinet Mov (N Y) 2019; 9: 10.7916/tohm.v0.672. Published online 2019 Sep 5. doi: 10.7916/tohm.v0.672

PMCID:: PMC6744813

Article PDF–761K

Select item 63824178.

Shaoyao Gancao Tang (SG-Tang), a formulated Chinese medicine, reduces aggregation and exerts neuroprotection in spinocerebellar ataxia type 17 (SCA17) cell and mouse models

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

Aging (Albany NY) 2019 Feb 15; 11(3): 986–1007. Published online 2019 Feb 13. doi: 10.18632/aging.101804

PMCID:: PMC6382417

Article PDF–2.3M

Select item 63295539.

Occurrence of Stridor During Sleep in a Patient With Spinocerebellar Ataxia Type 17

Kyeong Joon Kim, Jong-Min Kim, Yun Jung Bae, In-Young Yoon, Yoo Sung Song, Sang Eun Kim

J Clin Sleep Med. 2019 Jan 15; 15(1): 153–155. Published online 2019 Jan 15. doi: 10.5664/jcsm.7592

PMCID:: PMC6329553

Article PDF–3.6M

Select item 626534710.

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti

Front Cell Neurosci. 2018; 12: 429. Published online 2018 Nov 23. doi: 10.3389/fncel.2018.00429

PMCID:: PMC6265347

Article PDF–1.2M

Select item 585296411.

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich

Cerebellum Ataxias. 2018; 5: 7. Published online 2018 Mar 14. doi: 10.1186/s40673-018-0086-x

PMCID:: PMC5852964

Article PDF–1.0M

Select item 578962612.

Piperine ameliorates SCA17 neuropathology by reducing ER stress

Jifeng Guo, Yiting Cui, Qiong Liu, Yang Yang, Yujing Li, Ling Weng, Beisha Tang, Peng Jin, Xiao-Jiang Li, Su Yang, Shihua Li

Mol Neurodegener. 2018; 13: 4. Published online 2018 Jan 30. doi: 10.1186/s13024-018-0236-x

PMCID:: PMC5789626

Article PDF–2.4M

Select item 560746213.

Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17

Yang Yang, Su Yang, Jifeng Guo, Yiting Cui, Beisha Tang, Xiao-Jiang Li, Shihua Li

J Neurosci. 2017 Sep 20; 37(38): 9101–9115. doi: 10.1523/JNEUROSCI.0111-17.2017

PMCID:: PMC5607462

Article PDF–5.9M

Select item 515438114.

Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis

Su Yang, Xiao-Jiang Li, Shihua Li

Rare Dis. 2016; 4(1): e1223580. Published online 2016 Aug 12. doi: 10.1080/21675511.2016.1223580

PMCID:: PMC5154381

Article PDF–398K

Select item 480147715.

Investigating function and connectivity of morphometric findings — Exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17)

Kathrin Reetz, Imis Dogan, Arndt Rolfs, Ferdinand Binkofski, Jörg B. Schulz, Angela R. Laird, Peter T. Fox, Simon B. Eickhoff

Neuroimage. Author manuscript; available in PMC 2016 Mar 21.

Published in final edited form as: Neuroimage. 2012 Sep; 62(3): 1354–1366. Published online 2012 May 30. doi: 10.1016/j.neuroimage.2012.05.058

PMCID:: PMC4801477

Article PDF–1.1M

Select item 457106516.

Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study

Lulin Choubtum, Pirada Witoonpanich, Suchat Hanchaiphiboolkul, Roongroj Bhidayasiri, Onanong Jitkritsadakul, Sunsanee Pongpakdee, Suppachok Wetchaphanphesat, Pairoj Boonkongchuen, Teeratorn Pulkes

BMC Neurol. 2015; 15: 166. Published online 2015 Sep 15. doi: 10.1186/s12883-015-0425-y

PMCID:: PMC4571065

Article PDF–681K

Select item 453420217.

The Pathogenic Role of Low Range Repeats in SCA17

Jung Hwan Shin, Hyeyoung Park, Gwan Hee Ehm, Woong Woo Lee, Ji Young Yun, Young Eun Kim, Jee-Young Lee, Han-Joon Kim, Jong-Min Kim, Beom Seok Jeon, Sung-Sup Park

PLoS One. 2015; 10(8): e0135275. Published online 2015 Aug 12. doi: 10.1371/journal.pone.0135275

PMCID:: PMC4534202

Article PDF–408K

Select item 428013118.

Role of High Mobility Group Box 1 (HMGB1) in SCA17 Pathogenesis

Li-Ching Lee, Chiung-Mei Chen, Pin-Rong Wang, Ming-Tsan Su, Guey-Jen Lee-Chen, Chun-Yen Chang

PLoS One. 2014; 9(12): e115809. Published online 2014 Dec 30. doi: 10.1371/journal.pone.0115809

PMCID:: PMC4280131

Article PDF–3.8M

Select item 420620119.

Indole and synthetic derivative activate chaperone expression to reduce polyQ aggregation in SCA17 neuronal cell and slice culture models

Pin-Jui Kung, Yu-Chen Tao, Ho-Chiang Hsu, Wan-Ling Chen, Te-Hsien Lin, Donala Janreddy, Ching-Fa Yao, Kuo-Hsuan Chang, Jung-Yaw Lin, Ming-Tsan Su, Chung-Hsin Wu, Guey-Jen Lee-Chen, Hsiu-Mei Hsieh-Li

Drug Des Devel Ther. 2014; 8: 1929–1939. Published online 2014 Oct 16. doi: 10.2147/DDDT.S67376