| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Mariela Guevara-García, Lizette Gil-del Valle, Luis Velásquez-Pérez, Julio César García-Rodrígue. Oxidative stress as a cofactor in spinocerebellar ataxia type 2. Redox report : communications in free radical research. vol 17. issue 2. 2012-09-06. PMID:22564351. |
spinocerebellar ataxia type 2 (sca2) is a redox-sensitive neurodegenerative disease affecting the cerebellum, fibre connections in the cerebellum, the peripheral nervous system, and extracerebellar central pathways. |
2012-09-06 |
2023-08-12 |
Not clear |
| Wei-Ling Tsou, Bing-Wen Soong, Henry L Paulson, Edgardo Rodríguez-Lebró. Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. Neurobiology of disease. vol 43. issue 3. 2012-05-21. PMID:21550405. |
spinocerebellar ataxia type 6 (sca6) is an inherited neurodegenerative disease caused by a polyglutamine (polyq) expansion in the ca(v)2.1 voltage-gated calcium channel subunit (cacna1a). |
2012-05-21 |
2023-08-12 |
human |
| Yi Chun Chen, Jennifer R Gatchel, Rebecca W Lewis, Chai-An Mao, Patrick A Grant, Huda Y Zoghbi, Sharon Y R Den. Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Human molecular genetics. vol 21. issue 2. 2012-04-26. PMID:22002997. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disease caused by expansion of a cag repeat encoding a polyglutamine tract in atxn7, a component of the saga histone acetyltransferase (hat) complex. |
2012-04-26 |
2023-08-12 |
mouse |
| Caroline Kizilyaprak, Danièle Spehner, Didier Devys, Patrick Schult. The linker histone H1C contributes to the SCA7 nuclear phenotype. Nucleus (Austin, Tex.). vol 2. issue 5. 2012-03-06. PMID:21970987. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disease caused by a polyglutamine expansion in ataxin-7, a subunit of the saga coactivator, which leads to progressive neuronal dysfunction and cell death in cerebellum, brainstem and retina. |
2012-03-06 |
2023-08-12 |
mouse |
| John D Fryer, Peng Yu, Hyojin Kang, Caleigh Mandel-Brehm, Angela N Carter, Juan Crespo-Barreto, Yan Gao, Adriano Flora, Chad Shaw, Harry T Orr, Huda Y Zoghb. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science (New York, N.Y.). vol 334. issue 6056. 2012-01-25. PMID:22053053. |
spinocerebellar ataxia type 1 (sca1) is a fatal neurodegenerative disease caused by expansion of a translated cag repeat in ataxin-1 (atxn1). |
2012-01-25 |
2023-08-12 |
mouse |
| Marija Cvetanovic, Jay M Patel, Hugo H Marti, Ameet R Kini, Puneet Opa. Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1. Nature medicine. vol 17. issue 11. 2012-01-23. PMID:22001907. |
spinocerebellar ataxia type 1 (sca1) is an adult-onset, dominantly inherited neurodegenerative disease caused by expansion of a glutamine repeat tract in ataxin-1 (atxn1). |
2012-01-23 |
2023-08-12 |
mouse |
| Yuanzheng Gao, Emma M Perkins, Yvonne L Clarkson, Steven Tobia, Alastair R Lyndon, Mandy Jackson, Jeffrey D Rothstei. β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 31. issue 46. 2012-01-12. PMID:22090485. |
mutations in the gene encoding β-iii spectrin give rise to spinocerebellar ataxia type 5, a neurodegenerative disease characterized by progressive thinning of the molecular layer, loss of purkinje cells and increasing motor deficits. |
2012-01-12 |
2023-08-12 |
mouse |
| Kerri M Carlson, Laura Melcher, Shaojuan Lai, Huda Y Zoghbi, H Brent Clark, Harry T Or. Characterization of the zebrafish atxn1/axh gene family. Journal of neurogenetics. vol 23. issue 3. 2011-12-27. PMID:19085187. |
expansion of the polyglutamine tract in atxn1 causes the neurodegenerative disease, spinocerebellar ataxia type 1 (sca1) with prominent cerebellar pathology. |
2011-12-27 |
2023-08-12 |
human |
| Cathal McCann, Eimear E Holohan, Sudeshna Das, Adrian Dervan, Aoife Larkin, John Anthony Lee, Veronica Rodrigues, Roy Parker, Mani Ramaswam. The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation. Proceedings of the National Academy of Sciences of the United States of America. vol 108. issue 36. 2011-11-02. PMID:21795609. |
together, these observations (i) show that atx2 and mirna components regulate synapse-specific long-term plasticity in vivo; (ii) identify atx2 as a component of the mirna pathway; and (iii) provide insight into the biological function of atx2 that is of potential relevance to spinocerebellar ataxia and neurodegenerative disease. |
2011-11-02 |
2023-08-12 |
drosophila_melanogaster |
| Udo Rüb, Joanna C Jen, Heiko Braak, Thomas Delle. Functional neuroanatomy of the human premotor oculomotor brainstem nuclei: insights from postmortem and advanced in vivo imaging studies. Experimental brain research. vol 187. issue 2. 2011-05-25. PMID:18385989. |
data from control brains and from patients suffering from spinocerebellar ataxia type 3, a neurodegenerative disease that severely impairs oculomotor function are discussed and recommendations for the identification of human premotor oculomotor brainstem nuclei in post-mortem studies are given. |
2011-05-25 |
2023-08-12 |
human |
| Paymaan Jafar-Nejad, Christopher S Ward, Ronald Richman, Harry T Orr, Huda Y Zoghb. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. vol 108. issue 5. 2011-03-23. PMID:21245341. |
spinocerebellar ataxia type 1 (sca1) is a neurodegenerative disease caused by the expansion of a cag repeat encoding a polyglutamine tract in ataxin-1 (atxn1). |
2011-03-23 |
2023-08-12 |
mouse |
| Stephan W Schwarzacher, Udo Rüb, Thomas Delle. Neuroanatomical characteristics of the human pre-Bötzinger complex and its involvement in neurodegenerative brainstem diseases. Brain : a journal of neurology. vol 134. issue Pt 1. 2011-01-21. PMID:21115469. |
using serially sectioned brainstems from 19 normal individuals and patients suffering from neurodegenerative diseases (multiple system atrophy, n = 10; spinocerebellar ataxia type 3, n = 8), we have identified a circumscribed area of the ventrolateral medulla that represents the human homologue of the pre-bötzinger complex and have mapped its longitudinal and horizontal extents. |
2011-01-21 |
2023-08-12 |
human |
| Juan Crespo-Barreto, John D Fryer, Chad A Shaw, Harry T Orr, Huda Y Zoghb. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS genetics. vol 6. issue 7. 2010-11-22. PMID:20628574. |
spinocerebellar ataxia type 1 (sca1) is a dominantly inherited neurodegenerative disease caused by expansion of a cag repeat that encodes a polyglutamine tract in ataxin1 (atxn1). |
2010-11-22 |
2023-08-12 |
mouse |
| Scoty M Hearst, Mariper E Lopez, Qingmei Shao, Yong Liu, Parminder J S Vi. Dopamine D2 receptor signaling modulates mutant ataxin-1 S776 phosphorylation and aggregation. Journal of neurochemistry. vol 114. issue 3. 2010-10-06. PMID:20477910. |
spinocerebellar ataxia 1 (sca1) is a dominantly inherited neurodegenerative disease associated with progressive ataxia resulting from the loss of cerebellar purkinje cells (pcs) and neurons in the brainstem. |
2010-10-06 |
2023-08-12 |
mouse |
| Taro Ishiguro, Kinya Ishikawa, Makoto Takahashi, Masato Obayashi, Takeshi Amino, Nozomu Sato, Masaki Sakamoto, Hiroto Fujigasaki, Fuminori Tsuruta, Ricardo Dolmetsch, Takao Arai, Hidenao Sasaki, Kazuro Nagashima, Takeo Kato, Mitsunori Yamada, Hitoshi Takahashi, Yoshio Hashizume, Hidehiro Mizusaw. The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. Acta neuropathologica. vol 119. issue 4. 2010-08-13. PMID:20043227. |
spinocerebellar ataxia type 6 (sca6) is an autosomal dominant neurodegenerative disease caused by a small polyglutamine (polyq) expansion (control: 4-20q; sca6: 20-33q) in the carboxyl(c)-terminal cytoplasmic domain of the alpha(1a) voltage-dependent calcium channel (ca(v)2.1). |
2010-08-13 |
2023-08-12 |
human |
| Antoni Matilla-Dueñas, Ivelisse Sánchez, Marc Corral-Juan, Antoni Dávalos, Ramiro Alvarez, Pilar Latorr. Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum (London, England). vol 9. issue 2. 2010-08-12. PMID:19890685. |
the autosomal dominant spinocerebellar ataxias (scas) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. |
2010-08-12 |
2023-08-12 |
Not clear |
| Tiziana Sacco, Enrica Boda, Eriola Hoxha, Riccardo Pizzo, Claudia Cagnoli, Alfredo Brusco, Filippo Tempi. Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease. BMC neuroscience. vol 11. 2010-06-29. PMID:20426821. |
both afg3l2 and spg7 are involved in a neurodegenerative disease, namely the autosomal dominant spinocerebellar ataxia sca28 and a recessive form of spastic paraplegia, respectively. |
2010-06-29 |
2023-08-12 |
mouse |
| Can Zhang, Andrew Browne, Daniel Child, Jason R Divito, Jesse A Stevenson, Rudolph E Tanz. Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein. The Journal of biological chemistry. vol 285. issue 12. 2010-04-12. PMID:20097758. |
ataxin 1 (atxn1) is one of these four ad candidate genes and has been indicated to be the disease gene for spinocerebellar ataxia type 1, which is also a neurodegenerative disease. |
2010-04-12 |
2023-08-12 |
mouse |
| Karla P Figueroa, Sadaf Farooqi, Kristopher Harrup, Johnathan Frank, Stephen O'Rahilly, Stefan M Puls. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. PloS one. vol 4. issue 12. 2010-03-17. PMID:20016785. |
expansion of a cag repeat in the coding region of exon 1 in the atxn2 gene located in human chromosome 12q24.1 causes the neurodegenerative disease spinocerebellar ataxia type 2 (sca2). |
2010-03-17 |
2023-08-12 |
mouse |
| Shona Mookerjee, Theodora Papanikolaou, Stephan J Guyenet, Vanitha Sampath, Amy Lin, Cathy Vitelli, Francesco DeGiacomo, Bryce L Sopher, Sylvia F Chen, Albert R La Spada, Lisa M Ellerb. Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 29. issue 48. 2009-12-22. PMID:19955365. |
polyglutamine (polyq) expansion within the ataxin-7 protein, a member of the staga [spt3-taf(ii)31-gcn5l acetylase] and tftc (gcn5 and trrap) chromatin remodeling complexes, causes the neurodegenerative disease spinocerebellar ataxia type 7 (sca7). |
2009-12-22 |
2023-08-12 |
Not clear |