| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| M Cvetanovic, M Ingram, H Orr, P Opa. Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1. Neuroscience. vol 289. 2015-12-01. PMID:25595967. |
spinocerebellar ataxia type 1 (sca1) is an incurable, dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ataxin-1 (atxn1). |
2015-12-01 |
2023-08-13 |
mouse |
| Marija Cvetanovi. Decreased expression of glutamate transporter GLAST in Bergmann glia is associated with the loss of Purkinje neurons in the spinocerebellar ataxia type 1. Cerebellum (London, England). vol 14. issue 1. 2015-10-23. PMID:25255716. |
spinocerebellar ataxia type 1 (sca1) is a dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein atxn1. |
2015-10-23 |
2023-08-13 |
mouse |
| Tania Cruz-Mariño, Yaimeé Vázquez-Mojena, Luis Velázquez-Pérez, Yanetza González-Zaldívar, Raúl Aguilera-Rodríguez, Miguel Velázquez-Santos, Annelié Estupiñán-Rodríguez, José Miguel Laffita-Mesa, Luis E Almaguer-Mederos, Milena Panequ. SCA2 predictive testing in Cuba: challenging concepts and protocol evolution. Journal of community genetics. vol 6. issue 3. 2015-08-05. PMID:25893506. |
spinocerebellar ataxia type 2 (sca2) is a neurodegenerative disease caused by a cag repeat expansion in the atxn2 gene. |
2015-08-05 |
2023-08-13 |
human |
| Pawel M Switonski, Wojciech J Szlachcic, Wlodzimierz J Krzyzosiak, Maciej Figie. A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD. Neurobiology of disease. vol 73. 2015-07-29. PMID:25301414. |
spinocerebellar ataxia type 3 (sca3/mjd) is a neurodegenerative disease triggered by the expansion of cag repeats in the atxn3 gene. |
2015-07-29 |
2023-08-13 |
mouse |
| Xianjiang Lan, Evangelia Koutelou, Andria C Schibler, Yi Chun Chen, Patrick A Grant, Sharon Y R Den. Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module. Molecular and cellular biology. vol 35. issue 10. 2015-07-07. PMID:25755283. |
spinocerebellar ataxia type 7 (sca7) is a debilitating neurodegenerative disease caused by expansion of a polyglutamine [poly(q)] tract in atxn7, a subunit of the deubiquitinase (dub) module (dubm) in the saga complex. |
2015-07-07 |
2023-08-13 |
mouse |
| Francesca Maltecca, Elisa Baseggio, Francesco Consolato, Davide Mazza, Paola Podini, Samuel M Young, Ilaria Drago, Ben A Bahr, Aldamaria Puliti, Franca Codazzi, Angelo Quattrini, Giorgio Casar. Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. The Journal of clinical investigation. vol 125. issue 1. 2015-04-21. PMID:25485680. |
spinocerebellar ataxia type 28 (sca28) is a neurodegenerative disease caused by mutations of the mitochondrial protease afg3l2. |
2015-04-21 |
2023-08-13 |
mouse |
| Wu-Lin Charng, Shinya Yamamoto, Hugo J Belle. Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Current opinion in neurobiology. vol 27. 2015-03-30. PMID:24762652. |
genes that have been studied in the context of the development of drosophila peripheral nervous system (pns) and neuromuscular junction (nmj) have been identified as players in the pathogenesis of human neurodegenerative diseases, including spinocerebellar ataxia, amyotrophic lateral sclerosis, and spinal muscular atrophy. |
2015-03-30 |
2023-08-13 |
human |
| Anand Venkatraman, Yuan-Shih Hu, Alessandro Didonna, Marija Cvetanovic, Aleksandar Krbanjevic, Patrice Bilesimo, Puneet Opa. The histone deacetylase HDAC3 is essential for Purkinje cell function, potentially complicating the use of HDAC inhibitors in SCA1. Human molecular genetics. vol 23. issue 14. 2015-02-09. PMID:24594842. |
spinocerebellar ataxia type 1 (sca1) is an incurable neurodegenerative disease caused by a pathogenic glutamine repeat expansion in the protein ataxin-1 (atxn1). |
2015-02-09 |
2023-08-12 |
mouse |
| Yvonne L Clarkson, Emma M Perkins, Callum J Cairncross, Alastair R Lyndon, Paul A Skehel, Mandy Jackso. β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. Human molecular genetics. vol 23. issue 14. 2015-02-09. PMID:24603075. |
spinocerebellar ataxia type 5 (sca5) and spectrin associated autosomal recessive cerebellar ataxia type 1 are human neurodegenerative diseases involving progressive gait ataxia and cerebellar atrophy. |
2015-02-09 |
2023-08-12 |
human |
| Carmen Rodríguez-Cueto, Cristina Benito, Javier Fernández-Ruiz, Julián Romero, Mariluz Hernández-Gálvez, María Gómez-Rui. Changes in CB(1) and CB(2) receptors in the post-mortem cerebellum of humans affected by spinocerebellar ataxias. British journal of pharmacology. vol 171. issue 6. 2014-11-05. PMID:23808969. |
spinocerebellar ataxias (scas) are a family of chronic progressive neurodegenerative diseases, clinically and genetically heterogeneous, characterized by loss of balance and motor coordination due to degeneration of the cerebellum and its afferent and efferent connections. |
2014-11-05 |
2023-08-12 |
Not clear |
| Megan S Keiser, Ryan L Boudreau, Beverly L Davidso. Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy. Molecular therapy : the journal of the American Society of Gene Therapy. vol 22. issue 3. 2014-11-03. PMID:24419082. |
spinocerebellar ataxia type 1 (sca1) is an autosomal dominant, late-onset neurodegenerative disease caused by a polyglutamine (polyq) expansion in the ataxin-1 protein, which causes progressive neurodegeneration in cerebellar purkinje cells and brainstem nuclei. |
2014-11-03 |
2023-08-12 |
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 |
| Danielle C Smith, Alina Esterhuizen, Jacquie Greenber. Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles. The Journal of molecular diagnostics : JMD. vol 15. issue 5. 2014-04-08. PMID:23871770. |
spinocerebellar ataxia type 7 (sca7) is an inherited dominant neurodegenerative disease caused by the expansion of a cag repeat within the atxn7 gene. |
2014-04-08 |
2023-08-12 |
Not clear |
| Tara L Burke, Jaime L Miller, Patrick A Gran. Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7. The Journal of biological chemistry. vol 288. issue 47. 2014-02-04. PMID:24129567. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disease caused by polyglutamine (polyq) expansion within the n-terminal region of the ataxin-7 protein, a known subunit of the saga complex. |
2014-02-04 |
2023-08-12 |
Not clear |
| Laura Segabinazzi Pacheco, Aron Ferreira da Silveira, Alexis Trott, Lucien J Houenou, Thaís Doeler Algarve, Caroline Belló, Adriano Flesch Lenz, Maria Fernanda Mânica-Cattani, Ivana Beatrice Mânica da Cru. Association between Machado-Joseph disease and oxidative stress biomarkers. Mutation research. Genetic toxicology and environmental mutagenesis. vol 757. issue 2. 2014-01-17. PMID:23994570. |
spinocerebellar ataxia type 3, also called machado-joseph disease (mjd), is an hereditary autosomal dominant neurodegenerative disease that affects the cerebellum and its afferent and efferent connections. |
2014-01-17 |
2023-08-12 |
human |
| Katherine Fawcett, Mohadeseh Mehrabian, Yo-Tsen Liu, Sherifa Hamed, Elahe Elahi, Tamas Revesz, Georgios Koutsis, Joshua Herscheson, Lucia Schottlaender, Mark Wardle, Patrick J Morrison, Huw R Morris, Paola Giunti, Nicholas Wood, Henry Houlde. The frequency of spinocerebellar ataxia type 23 in a UK population. Journal of neurology. vol 260. issue 3. 2013-09-19. PMID:23108490. |
spinocerebellar ataxias (sca) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities. |
2013-09-19 |
2023-08-12 |
Not clear |
| Eunji Kim, Hsiang-Chih Lu, Huda Y Zoghbi, Ji-Joon Son. Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua. Genes & development. vol 27. issue 6. 2013-05-03. PMID:23512657. |
spinocerebellar ataxia type 1 (sca1) is a dominantly inherited neurodegenerative disease caused by polyglutamine expansion in ataxin-1 (atxn1). |
2013-05-03 |
2023-08-12 |
mouse |
| Marija Cvetanovic, Rupinder K Kular, Puneet Opa. LANP mediates neuritic pathology in Spinocerebellar ataxia type 1. Neurobiology of disease. vol 48. issue 3. 2013-04-30. PMID:22884877. |
spinocerebellar ataxia type 1 (sca1) is an autosomal dominant neurodegenerative disease that results from a pathogenic glutamine-repeat expansion in the protein ataxin-1 (atxn1). |
2013-04-30 |
2023-08-12 |
mouse |
| Alexis Trott, Lucien J Houeno. Mini-review: spinocerebellar ataxias: an update of SCA genes. Recent patents on DNA & gene sequences. vol 6. issue 2. 2013-01-09. PMID:22670601. |
autosomal dominant spinocerebellar ataxias (scas) are a complex group of debilitating and neurodegenerative diseases that affect the cerebellum and its main connections and characterized by a generalized incoordination of gait, speech, and limb movements. |
2013-01-09 |
2023-08-12 |
Not clear |
| Lisa Mapelli, Claudio Canale, Daniela Pesci, Stefania Averaimo, Fabiana Guizzardi, Valentina Fortunati, Laura Falasca, Mauro Piacentini, Alessandra Gliozzi, Annalisa Relini, Michele Mazzanti, Carla Jodic. Toxic effects of expanded ataxin-1 involve mechanical instability of the nuclear membrane. Biochimica et biophysica acta. vol 1822. issue 6. 2012-09-27. PMID:22330095. |
ataxin 1 (atxn1) is the protein involved in spinocerebellar ataxia type 1, one of nine dominantly inherited neurodegenerative diseases triggered by polyglutamine expansion. |
2012-09-27 |
2023-08-12 |
Not clear |