| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jingmin Ji, Melanie L Hassler, Etsuko Shimobayashi, Nagendher Paka, Raphael Streit, Josef P Kapfhamme. Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. Neurobiology of disease. vol 70. 2015-04-21. PMID:24937631. |
spinocerebellar ataxias (scas) are hereditary diseases leading to purkinje cell degeneration and cerebellar dysfunction. |
2015-04-21 |
2023-08-13 |
mouse |
| Karen R Armbrust, Xinming Wang, Tyisha J Hathorn, Samuel W Cramer, Gang Chen, Tao Zu, Takashi Kangas, Anastasia N Zink, Gülin Öz, Timothy J Ebner, Laura P W Ranu. Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 34. issue 30. 2014-09-22. PMID:25057192. |
spinocerebellar ataxia type 5 (sca5), a dominant neurodegenerative disease characterized by profound purkinje cell loss, is caused by mutations in sptbn2, a gene that encodes β-iii spectrin. |
2014-09-22 |
2023-08-13 |
mouse |
| Yusuke Niimi, Makoto Takahashi, Emiko Sugawara, Shigeaki Umeda, Masato Obayashi, Nozomu Sato, Taro Ishiguro, Miwa Higashi, Yoshinobu Eishi, Hidehiro Mizusawa, Kinya Ishikaw. Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 33. issue 6. 2014-08-19. PMID:23607545. |
abnormal rna structures (rna foci) containing a penta-nucleotide repeat (uggaa)n in the purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis. |
2014-08-19 |
2023-08-12 |
human |
| Yusuke Niimi, Makoto Takahashi, Emiko Sugawara, Shigeaki Umeda, Masato Obayashi, Nozomu Sato, Taro Ishiguro, Miwa Higashi, Yoshinobu Eishi, Hidehiro Mizusawa, Kinya Ishikaw. Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 33. issue 6. 2014-08-19. PMID:23607545. |
spinocerebellar ataxia type 31 (sca31) is an autosomal-dominant cerebellar ataxia showing a purkinje cell (pc)-predominant neurodegeneration in humans. |
2014-08-19 |
2023-08-12 |
human |
| Guangbin Xia, Katherine Santostefano, Takashi Hamazaki, Jilin Liu, S H Subramony, Naohiro Terada, Tetsuo Ashizaw. Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro. Journal of molecular neuroscience : MN. vol 51. issue 2. 2014-05-30. PMID:23224816. |
spinocerebellar ataxia type 2 (sca2) is caused by triple nucleotide repeat (cag) expansion in the coding region of the ataxn2 gene on chromosome 12, which produces an elongated, toxic polyglutamine tract, leading to purkinje cell loss. |
2014-05-30 |
2023-08-12 |
human |
| Hiroki Shiwaku, Saburo Yagishita, Yoshinobu Eishi, Hitoshi Okazaw. Bergmann glia are reduced in spinocerebellar ataxia type 1. Neuroreport. vol 24. issue 11. 2014-03-05. PMID:23778076. |
we reported previously that mutant ataxin-1, a causative gene product of spinocerebellar ataxia type 1 (sca1), prevents bergmann glia proliferation in mutant ataxin-1 knockin mice and that suppressed bergmann glia function leads to purkinje cell degeneration. |
2014-03-05 |
2023-08-12 |
mouse |
| Guangbin Xia, Karen N McFarland, Kang Wang, Partha S Sarkar, Anthony T Yachnis, Tetsuo Ashizaw. Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10. Journal of neurology, neurosurgery, and psychiatry. vol 84. issue 12. 2014-01-09. PMID:23813740. |
purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10. |
2014-01-09 |
2023-08-12 |
Not clear |
| Elisa J Cops, Maithili Sashindranath, Maria Daglas, Kieran M Short, Candida da Fonseca Pereira, Terence Y Pang, Roger H Lijnen, Ian M Smyth, Anthony J Hannan, Andre L Samson, Robert L Medcal. Tissue-type plasminogen activator is an extracellular mediator of Purkinje cell damage and altered gait. Experimental neurology. vol 249. 2013-12-09. PMID:23939410. |
purkinje cell damage manifests as motor incoordination and ataxia - a prominent feature of many human disorders including spinocerebellar ataxia and huntington's disease. |
2013-12-09 |
2023-08-12 |
mouse |
| Katherine E Hekman, Guo-Yun Yu, Christopher D Brown, Haipeng Zhu, Xiaofei Du, Kristina Gervin, Dag Erik Undlien, April Peterson, Giovanni Stevanin, H Brent Clark, Stefan M Pulst, Thomas D Bird, Kevin P White, Christopher M Gome. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Human molecular genetics. vol 21. issue 26. 2013-05-15. PMID:23001565. |
the autosomal dominant spinocerebellar ataxias (scas) are a genetically heterogeneous group of disorders exhibiting cerebellar atrophy and purkinje cell degeneration whose subtypes arise from 31 distinct genetic loci. |
2013-05-15 |
2023-08-12 |
Not clear |
| Adebimpe Kasumu, Ilya Bezprozvann. Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. Cerebellum (London, England). vol 11. issue 3. 2012-12-11. PMID:20480274. |
here, we discuss a calcium hypothesis of purkinje cell neurodegeneration in scas by primarily focusing on an example of spinocerebellar ataxia 2 (sca2). |
2012-12-11 |
2023-08-12 |
Not clear |
| Kei Watase, Kinya Ishikawa, Hidehiro Mizusaw. [SCA6: From gene identification to recent progress on pathogenesis]. Rinsho shinkeigaku = Clinical neurology. vol 50. issue 11. 2012-09-17. PMID:21921472. |
spinocerebellar ataxia type 6 (sca6) is one of the common dominantly inherited ataxias in japan, featuring late-onset ataxia and selective purkinje cell (pc) degeneration. |
2012-09-17 |
2023-08-12 |
Not clear |
| Ulf Edener, Veronica Bernard, Yorck Hellenbroich, Gabriele Gillessen-Kaesbach, Christine Zühlk. Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic. Journal of neurology. vol 258. issue 7. 2011-11-15. PMID:21267591. |
autosomal dominant spinocerebellar ataxias (scas) are heterogeneous neurological disorders characterised by cerebellar dysfunction mostly due to purkinje cell degeneration. |
2011-11-15 |
2023-08-12 |
Not clear |
| Emma M Perkins, Yvonne L Clarkson, Nancy Sabatier, David M Longhurst, Christopher P Millward, Jennifer Jack, Junko Toraiwa, Mitsunori Watanabe, Jeffrey D Rothstein, Alastair R Lyndon, David J A Wyllie, Mayank B Dutia, Mandy Jackso. Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 30. issue 14. 2010-04-26. PMID:20371805. |
loss of beta-iii spectrin leads to purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. |
2010-04-26 |
2023-08-12 |
mouse |
| Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali, Liana Veneziano, Tiziana Sacco, Enrica Boda, Alessandro Brussino, Florian Bonn, Barbara Castellotti, Silvia Baratta, Caterina Mariotti, Cinzia Gellera, Valentina Fracasso, Stefania Magri, Thomas Langer, Paolo Plevani, Stefano Di Donato, Marco Muzi-Falconi, Franco Taron. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature genetics. vol 42. issue 4. 2010-04-16. PMID:20208537. |
autosomal dominant spinocerebellar ataxias (scas) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to purkinje cell degeneration. |
2010-04-16 |
2023-08-12 |
human |
| Francesca Maltecca, Raffaella Magnoni, Federica Cerri, Gregory A Cox, Angelo Quattrini, Giorgio Casar. Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 29. issue 29. 2009-08-10. PMID:19625515. |
haploinsufficiency of afg3l2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated purkinje cell dark degeneration. |
2009-08-10 |
2023-08-12 |
mouse |
| Juan Fernandez-Ruiz, Luis Velásquez-Perez, Rosalinda Díaz, René Drucker-Colín, Ruth Pérez-González, Nalia Canales, Gilberto Sánchez-Cruz, Edilberto Martínez-Góngora, Yaquelín Medrano, Luis Almaguer-Mederos, Carola Seifried, Georg Auburge. Prism adaptation in spinocerebellar ataxia type 2. Neuropsychologia. vol 45. issue 12. 2007-10-25. PMID:17507059. |
patients with spinocerebellar ataxia type 2 (sca2), develop severe pontine nuclei, inferior olives, and purkinje cell degeneration. |
2007-10-25 |
2023-08-12 |
Not clear |
| H Ito, H Kawakami, R Wate, S Matsumoto, T Imai, A Hirano, H Kusak. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. Neurology. vol 67. issue 8. 2006-11-09. PMID:17060579. |
this characteristic distribution of neurodegeneration and purkinje cell cytopathology were distinct from those of other hereditary spinocerebellar ataxias previously reported. |
2006-11-09 |
2023-08-12 |
Not clear |
| M Tsirigotis, M Y Tang, M Beyers, M Zhang, J Woulfe, D A Gra. Delayed spinocerebellar ataxia in transgenic mice expressing mutant ubiquitin. Neuropathology and applied neurobiology. vol 32. issue 1. 2006-03-14. PMID:16409551. |
this delay was accompanied by stabilization of p300/cbp, transcriptional mediators whose abundance and activity would otherwise decline in the course of the sca1 disease, and persistence of protein kinase c gamma (pkcgamma), a protein involved in purkinje cell dendritic development that is mutated in one form of spinocerebellar ataxia. |
2006-03-14 |
2023-08-12 |
mouse |
| Tao Zu, Lisa A Duvick, Michael D Kaytor, Michael S Berlinger, Huda Y Zoghbi, H Brent Clark, Harry T Or. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 24. issue 40. 2005-04-08. PMID:15470152. |
spinocerebellar ataxia type 1 (sca1) is an autosomal dominant, polyglutamine-induced neurodegenerative disorder that results in loss of motor coordination caused primarily by a disruption of cerebellar purkinje cell function. |
2005-04-08 |
2023-08-12 |
mouse |
| Takafumi Inou. Dynamics of calcium and its roles in the dendrite of the cerebellar Purkinje cell. The Keio journal of medicine. vol 52. issue 4. 2004-02-26. PMID:14748477. |
purkinje cells in a model mouse line of human neurodegenerative disease, spinocerebellar ataxia type 1, showed abnormal ca2+ release properties, which indicated tight regulation of ca2+ dynamics in the wild type purkinje cell. |
2004-02-26 |
2023-08-12 |
mouse |