| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lisa Duvick, W Michael Southern, Kellie Benzow, Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Keerthy Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie Scheeler, Orion Rainwater, Serres Shannah, Erin Larson, Tessa Nichols-Meade, Yun You, Brennon Oâ Callaghan, Huda Y Zoghbi, James M Ervasti, Marija Cvetanovic, Michael D Koob, Harry T Or. Regional vulnerability in a neurodegenerative disease: Delineating SCA1 CNS and muscle therapeutic targets using a conditional mutant ATXN1 mouse. bioRxiv : the preprint server for biology. 2023-02-17. PMID:36798410. |
spinocerebellar ataxia type 1 (sca1) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the widely expressed atxn1 protein. |
2023-02-17 |
2023-08-14 |
mouse |
| Juao-Guilherme Rosa, Katherine Hamel, Alyssa Soles, Carrie Sheeler, Ella Borgenheimer, Stephen Gilliat, Kaelin Sbrocco, Ferris Ghanoum, Hillary P Handler, Colleen Forster, Orion Rainwater, Marija Cvetanovi. BDNF is altered in a brain-region specific manner and rescues deficits in Spinocerebellar Ataxia Type 1. Neurobiology of disease. 2023-02-01. PMID:36724861. |
spinocerebellar ataxia type 1 (sca1) is an adult-onset, dominantly inherited neurodegenerative disease caused by the expanded polyq tract in the protein ataxin1 (atxn1) and characterized by progressive motor and cognitive impairments. |
2023-02-01 |
2023-08-14 |
mouse |
| Stephanie L Coffin, Mark A Durham, Larissa Nitschke, Eder Xhako, Amanda M Brown, Jean-Pierre Revelli, Esmeralda Villavicencio Gonzalez, Tao Lin, Hillary P Handler, Yanwan Dai, Alexander J Trostle, Ying-Wooi Wan, Zhandong Liu, Roy V Sillitoe, Harry T Orr, Huda Y Zoghb. Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2022-12-28. PMID:36577402. |
spinocerebellar ataxia type 1 (sca1) is a paradigmatic neurodegenerative disease in that it is caused by a mutation in a broadly expressed protein, atxn1; however, only select populations of cells degenerate. |
2022-12-28 |
2023-08-14 |
Not clear |
| Ella Borgenheimer, Katherine Hamel, Carrie Sheeler, Francisco Labrada Moncada, Kaelin Sbrocco, Ying Zhang, Marija Cvetanovi. Single nuclei RNA sequencing investigation of the Purkinje cell and glial changes in the cerebellum of transgenic Spinocerebellar ataxia type 1 mice. Frontiers in cellular neuroscience. vol 16. 2022-12-02. PMID:36457352. |
spinocerebellar ataxia type 1 (sca1) is a progressive neurodegenerative disease characterized by a severe degeneration of cerebellar purkinje cells (pcs) and cerebellar gliosis. |
2022-12-02 |
2023-08-14 |
mouse |
| Robin Cabeza-Ruiz, Luis Velázquez-Pérez, Roberto Pérez-Rodríguez, Kathrin Reet. ConvNets for automatic detection of polyglutamine SCAs from brain MRIs: state of the art applications. Medical & biological engineering & computing. 2022-11-17. PMID:36385616. |
polyglutamine spinocerebellar ataxias (polyq scas) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by loss of balance and motor coordination due to dysfunction of the cerebellum and its connections. |
2022-11-17 |
2023-08-14 |
Not clear |
| Catarina Osório, Joshua J White, Heiling Lu, Gerrit C Beekhof, Francesca Romana Fiocchi, Charlotte A Andriessen, Stephanie Dijkhuizen, Laura Post, Martijn Schonewill. Pre-ataxic loss of intrinsic plasticity and motor learning in a mouse model of SCA1. Brain : a journal of neurology. 2022-11-10. PMID:36352508. |
spinocerebellar ataxias are neurodegenerative diseases the hallmark symptom of which is the development of ataxia due to cerebellar dysfunction. |
2022-11-10 |
2023-08-14 |
mouse |
| Libera Siciliano, Giusy Olivito, Nicole Urbini, Maria Caterina Silveri, Maria Leggi. " Biomedicines. vol 10. issue 9. 2022-09-23. PMID:36140267. |
accordingly, this study aims to investigate whether motor reserve (mr), likely to be boosted by exercise engagement in a lifetime, affects motor symptom severity, cognitive functioning, and functional brain networks in spinocerebellar ataxia type 2 (sca2)-a cerebellar neurodegenerative disease. |
2022-09-23 |
2023-08-14 |
Not clear |
| Anna A Cook, Sriram Jayabal, Jacky Sheng, Eviatar Fields, Tsz Chui Sophia Leung, Sabrina Quilez, Eileen McNicholas, Lois Lau, Shixia Huang, Alanna J Wat. Activation of TrkB-Akt signaling rescues deficits in a mouse model of SCA6. Science advances. vol 8. issue 37. 2022-09-16. PMID:36112675. |
spinocerebellar ataxia type 6 (sca6) is a neurodegenerative disease resulting in motor coordination deficits and cerebellar pathology. |
2022-09-16 |
2023-08-14 |
mouse |
| Kimberly Luttik, Victor Olmos, Ashley Owens, Aryaan Khan, Joy Yun, Terri Driessen, Janghoo Li. Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex. Cells. vol 11. issue 17. 2022-09-09. PMID:36078042. |
the neurodegenerative disease spinocerebellar ataxia type 1 (sca1) is known to lead to the progressive degeneration of specific neuronal populations, including cerebellar purkinje cells (pcs), brainstem cranial nerve nuclei and inferior olive nuclei, and spinocerebellar tracts. |
2022-09-09 |
2023-08-14 |
mouse |
| Kimberly Luttik, Leon Tejwani, Hyoungseok Ju, Terri Driessen, Cleo J L M Smeets, Chandrakanth Reddy Edamakanti, Aryaan Khan, Joy Yun, Puneet Opal, Janghoo Li. Differential effects of Wnt-β-catenin signaling in Purkinje cells and Bergmann glia in spinocerebellar ataxia type 1. Proceedings of the National Academy of Sciences of the United States of America. vol 119. issue 34. 2022-08-15. PMID:35969780. |
spinocerebellar ataxia type 1 (sca1) is a dominantly inherited neurodegenerative disease characterized by progressive ataxia and degeneration of specific neuronal populations, including purkinje cells (pcs) in the cerebellum. |
2022-08-15 |
2023-08-14 |
mouse |
| Xiaobo Han, Jean de Dieu Habimana, Amy L Li, Rongqi Huang, Omar Mukama, Weiyue Deng, Ling Wang, Yuying Zhang, Wei Wang, Sihao Deng, Kexin Peng, Bing Ni, Shusheng Zhang, Jufang Huang, Xiao-Xin Yan, Zhiyuan L. Transcription factor EB-mediated mesenchymal stem cell therapy induces autophagy and alleviates spinocerebellar ataxia type 3 defects in neuronal cells model. Cell death & disease. vol 13. issue 7. 2022-07-19. PMID:35851059. |
defects in ataxin-3 proteins and cag repeat expansions in its coding gene atxn3 cause spinocerebellar ataxia type 3 (sca3) or machado-joseph disease (mjd) polyglutamine neurodegenerative disease. |
2022-07-19 |
2023-08-14 |
Not clear |
| Izumi Aida, Tetsuo Ozawa, Kentaro Ohta, Hidehiko Fujinaka, Kiyoe Goto, Takashi Nakajim. Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan. Internal medicine (Tokyo, Japan). 2022-02-03. PMID:35110481. |
autosomal recessive spinocerebellar ataxia of type 10 (scar10) is a very rare neurodegenerative disease caused by mutations in the tmem16k (ano10) gene. |
2022-02-03 |
2023-08-13 |
Not clear |
| Anna Niewiadomska-Cimicka, Frédéric Doussau, Jean-Baptiste Perot, Michel J Roux, Celine Keime, Antoine Hache, Françoise Piguet, Ariana Novati, Chantal Weber, Binnaz Yalcin, Hamid Meziane, Marie-France Champy, Erwan Grandgirard, Alice Karam, Nadia Messaddeq, Aurélie Eisenmann, Emmanuel Brouillet, Hoa Huu Phuc Nguyen, Julien Flament, Philippe Isope, Yvon Trottie. SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 41. issue 22. 2021-11-19. PMID:33888607. |
spinocerebellar ataxia type 7 (sca7) is an inherited neurodegenerative disease mainly characterized by motor incoordination because of progressive cerebellar degeneration. |
2021-11-19 |
2023-08-13 |
mouse |
| Pan P Li, Roumita Moulick, Hongxuan Feng, Xin Sun, Nicolas Arbez, Jing Jin, Leonard O Marque, Erin Hedglen, H Y Edwin Chan, Christopher A Ross, Stefan M Pulst, Russell L Margolis, Sarah Woodson, Dobrila D Rudnick. RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2. Movement disorders : official journal of the Movement Disorder Society. vol 36. issue 11. 2021-11-16. PMID:34390268. |
spinocerebellar ataxia type 2 (sca2) is a neurodegenerative disease caused by expansion of a cag repeat in ataxin-2 (atxn2) gene. |
2021-11-16 |
2023-08-13 |
Not clear |
| Fan Wu, Xu Wang, Xiaohan Li, Huidi Teng, Tao Tian, Jing Ba. Spinocerebellar ataxia type 23 (SCA23): a review. Journal of neurology. vol 268. issue 12. 2021-11-04. PMID:33175256. |
spinocerebellar ataxias (scas), formerly known as autosomal dominant cerebellar ataxias (adcas), are a group of hereditary heterogeneous neurodegenerative diseases. |
2021-11-04 |
2023-08-13 |
Not clear |
| Katherine J Robinson, Madelaine C Tym, Alison Hogan, Maxinne Watchon, Kristy C Yuan, Stuart K Plenderleith, Emily K Don, Angela S Lair. Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3. Disease models & mechanisms. vol 14. issue 10. 2021-10-22. PMID:34473252. |
spinocerebellar ataxia 3 (sca3, also known as machado-joseph disease) is a neurodegenerative disease caused by inheritance of a cag repeat expansion within the atxn3 gene, resulting in polyglutamine (polyq) repeat expansion within the ataxin-3 protein. |
2021-10-22 |
2023-08-13 |
human |
| Lang He, Shang Wang, Linliu Peng, Huifang Zhao, Shuai Li, Xiaobo Han, Jean de Dieu Habimana, Zhao Chen, Chunrong Wang, Yun Peng, Huirong Peng, Yue Xie, Lijing Lei, Qi Deng, Linlin Wan, Na Wan, Hongyu Yuan, Yiqing Gong, Guangdong Zou, Zhiyuan Li, Beisha Tang, Hong Jian. CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells. Translational psychiatry. vol 11. issue 1. 2021-10-11. PMID:34535635. |
spinocerebellar ataxia type 3/machado-joseph disease (sca3/mjd) is a progressive autosomal dominant neurodegenerative disease caused by abnormal cag repeats in the exon 10 of atxn3. |
2021-10-11 |
2023-08-13 |
Not clear |
| Richard J Burman, Lauren M Watson, Danielle C Smith, Joseph V Raimondo, Robea Ballo, Janine Scholefield, Sally A Cowley, Matthew J A Wood, Susan H Kidson, Leslie J Greenber. Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells. PloS one. vol 16. issue 2. 2021-08-20. PMID:33626063. |
spinocerebellar ataxia type 7 (sca7) is an inherited neurodegenerative disease caused by a polyglutamine repeat expansion in the atxn7 gene. |
2021-08-20 |
2023-08-13 |
Not clear |
| Lucas Schenatto Sena, Jordânia Dos Santos Pinheiro, Maria Luiza Saraiva-Pereira, Laura Bannach Jardi. Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: A systematic review and meta-analysis. Clinical genetics. vol 99. issue 3. 2021-08-19. PMID:33219521. |
spinocerebellar ataxia type 3/machado-joseph disease (sca3/mjd) is a dominant neurodegenerative disease caused by the expansion of a cag repeat tract in atxn3. |
2021-08-19 |
2023-08-13 |
human |
| Mohamed A Elsaey, Kazuhiko Namikawa, Reinhard W Köste. Genetic Modeling of the Neurodegenerative Disease Spinocerebellar Ataxia Type 1 in Zebrafish. International journal of molecular sciences. vol 22. issue 14. 2021-08-17. PMID:34298970. |
dominant spinocerebellar ataxias (scas) are progredient neurodegenerative diseases commonly affecting the survival of purkinje cells (pcs) in the human cerebellum. |
2021-08-17 |
2023-08-13 |
human |