| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Francesca Prestori, Francesco Moccia, Egidio D'Angel. Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA). International journal of molecular sciences. vol 21. issue 1. 2020-05-14. PMID:31892274. |
spinocerebellar ataxias (scas) constitute a heterogeneous group of more than 40 autosomal-dominant genetic and neurodegenerative diseases characterized by loss of balance and motor coordination due to dysfunction of the cerebellum and its efferent connections. |
2020-05-14 |
2023-08-13 |
human |
| Paola Rusmini, Katia Cortese, Valeria Crippa, Riccardo Cristofani, Maria Elena Cicardi, Veronica Ferrari, Giulia Vezzoli, Barbara Tedesco, Marco Meroni, Elio Messi, Margherita Piccolella, Mariarita Galbiati, Massimiliano Garrè, Elena Morelli, Thomas Vaccari, Angelo Polett. Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration. Autophagy. vol 15. issue 4. 2020-05-11. PMID:30335591. |
abbreviations: als: amyotrophic lateral sclerosis; ar: androgen receptor; atg: autophagy related; av: autophagic vacuole; bag3: bcl2-associated athanogene 3; becn1: beclin 1, autophagy related; casa: chaperone-assisted selective autophagy; ctsb: cathepsin b; dapi: 4',6-diamidino-2-phenylindole; dmem: dulbecco's modified eagle's medium; egfp: enhanced green fluorescent protein; fals, familial amyotrophic lateral sclerosis; fra: filter retardation assay; gapdh: glyceraldehyde-3-phosphate dehydrogenase; gla: galactosidase, alpha; hd: huntington disease; hipscs: human induced pluripotent stem cells; hspa8: heat shock protein a8; hspb8: heat shock protein b8; if: immunofluorescence analysis; lamp1: lysosomal-associated membrane protein 1; lamp2a: lysosomal-associated membrane protein 2a; lgals3: lectin, galactose binding, soluble 3; llome: l-leucyl-l-leucine methyl ester; lmp: lysosomal membrane permeabilization; lys: lysosomes; map1lc3b: microtubule-associated protein 1 light chain 3 beta; mcoln1: mucolipin 1; mrna: messenger rna; mtor: mechanistic target of rapamycin kinase; nds: neurodegenerative diseases; nsc34: neuroblastoma x spinal cord 34; pbs: phosphate-buffered saline; pd: parkinson disease; polyq: polyglutamine; ppargc1a: peroxisome proliferative activated receptor, gamma, coactivator 1 alpha; ppp3cb: protein phosphatase 3, catalytic subunit, beta isoform; rt-qpcr: real-time quantitative polymerase chain reaction; sbma: spinal and bulbar muscular atrophy; scas: spinocerebellar ataxias; sirna: small interfering rna; slc2a8: solute carrier family 2, (facilitated glucose transporter), member 8; smnpcs: small molecules neural progenitors cells; sod1: superoxide dismutase 1; sqstm1/p62: sequestosome 1; sted: stimulated emission depletion; stub1: stip1 homology and u-box containing protein 1; tardbp/tdp-43: tar dna binding protein; tfeb: transcription factor eb; tpp1: tripeptidyl peptidase i; treh: trehalase (brush-border membrane glycoprotein); wb: western blotting; zkscan3: zinc finger with krab and scan domains 3. |
2020-05-11 |
2023-08-13 |
human |
| Jaehong Suh, Donna M Romano, Larissa Nitschke, Scott P Herrick, Britt A DiMarzio, Volodymyr Dzhala, Jun-Seok Bae, Mary K Oram, Yuejiao Zheng, Basavaraj Hooli, Kristina Mullin, Vincenzo A Gennarino, Wilma Wasco, Jeremy D Schmahmann, Mark W Albers, Huda Y Zoghbi, Rudolph E Tanz. Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription. Cell. vol 178. issue 5. 2020-05-11. PMID:31442405. |
expansion of cag trinucleotide repeats in atxn1 causes spinocerebellar ataxia type 1 (sca1), a neurodegenerative disease that impairs coordination and cognition. |
2020-05-11 |
2023-08-13 |
mouse |
| Veronica Cloud, Ada Thapa, Pedro Morales-Sosa, Tayla M Miller, Sara A Miller, Daniel Holsapple, Paige M Gerhart, Elaheh Momtahan, Jarrid L Jack, Edgardo Leiva, Sarah R Rapp, Lauren G Shelton, Richard A Pierce, Skylar Martin-Brown, Laurence Florens, Michael P Washburn, Ryan D Moha. Ataxin-7 and Non-stop coordinate SCAR protein levels, subcellular localization, and actin cytoskeleton organization. eLife. vol 8. 2020-01-31. PMID:31348003. |
atxn7, a subunit of saga chromatin remodeling complex, is subject to polyglutamine expansion at the amino terminus, causing spinocerebellar ataxia type 7 (sca7), a progressive retinal and neurodegenerative disease. |
2020-01-31 |
2023-08-13 |
human |
| Verónica M Borgonio-Cuadra, Claudia Valdez-Vargas, Sandra Romero-Córdoba, Alfredo Hidalgo-Miranda, Yessica Tapia-Guerrero, César M Cerecedo-Zapata, Oscar Hernández-Hernández, Bulmaro Cisneros, Jonathan J Magañ. Wide Profiling of Circulating MicroRNAs in Spinocerebellar Ataxia Type 7. Molecular neurobiology. vol 56. issue 9. 2020-01-09. PMID:30721448. |
spinocerebellar ataxia type 7 (sca7), a neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, is caused by a cag repeat expansion in the atxn7 gene coding region. |
2020-01-09 |
2023-08-13 |
Not clear |
| Michela Lupo, Giusy Olivito, Claudia Iacobacci, Silvia Clausi, Silvia Romano, Marcella Masciullo, Marco Molinari, Mara Cercignani, Marco Bozzali, Maria Leggi. The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 108. 2019-11-26. PMID:30121445. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome and multiple-domain cognitive impairments. |
2019-11-26 |
2023-08-13 |
human |
| Masashi Watanave, Chiaki Hoshino, Ayumu Konno, Yumi Fukuzaki, Yasunori Matsuzaki, Tohru Ishitani, Hirokazu Hira. Pharmacological enhancement of retinoid-related orphan receptor α function mitigates spinocerebellar ataxia type 3 pathology. Neurobiology of disease. vol 121. 2019-11-21. PMID:30343032. |
spinocerebellar ataxia type 3 (sca3, also known as machado-joseph disease), a hereditary neurodegenerative disease, is caused by an abnormal expansion of the polyglutamine tract in the causative atxn3 protein. |
2019-11-21 |
2023-08-13 |
mouse |
| Kathrin Reetz, Roberto Rodríguez-Labrada, Imis Dogan, Shahram Mirzazade, Sandro Romanzetti, Jörg B Schulz, Edilia M Cruz-Rivas, Jose A Alvarez-Cuesta, Raul Aguilera Rodríguez, Yanetza Gonzalez Zaldivar, Georg Auburger, Luis Velázquez-Pére. Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2. Annals of clinical and translational neurology. vol 5. issue 2. 2019-11-20. PMID:29468174. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. |
2019-11-20 |
2023-08-13 |
Not clear |
| Chandrakanth Reddy Edamakanti, Jeehaeh Do, Alessandro Didonna, Marco Martina, Puneet Opa. Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. The Journal of clinical investigation. vol 128. issue 6. 2019-09-10. PMID:29533923. |
spinocerebellar ataxia type 1 (sca1) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the protein atxn1, which is involved in transcriptional regulation. |
2019-09-10 |
2023-08-13 |
mouse |
| Judit M Pérez Ortiz, Nissa Mollema, Nicholas Toker, Carolyn J Adamski, Brennon O'Callaghan, Lisa Duvick, Jillian Friedrich, Michael A Walters, Jessica Strasser, Jon E Hawkinson, Huda Y Zoghbi, Christine Henzler, Harry T Orr, Sarita Lagalwa. Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model. Neurobiology of disease. vol 116. 2019-09-06. PMID:29758256. |
spinocerebellar ataxia type 1 (sca1) is a polyglutamine (polyq) repeat neurodegenerative disease in which a primary site of pathogenesis are cerebellar purkinje cells. |
2019-09-06 |
2023-08-13 |
mouse |
| Shin-Wu Liu, Jui-Chih Chang, Sheng-Fei Chuang, Ko-Hung Liu, Wen-Ling Cheng, Hui-Ju Chang, Huei-Shin Chang, Ta-Tsung Lin, Ching-Liang Hsieh, Wei-Yong Lin, Mingli Hsieh, Shou-Jen Kuo, Chin-San Li. Far-infrared Radiation Improves Motor Dysfunction and Neuropathology in Spinocerebellar Ataxia Type 3 Mice. Cerebellum (London, England). vol 18. issue 1. 2019-05-20. PMID:29725949. |
spinocerebellar ataxia type 3 (sca3) is a polyglutamine neurodegenerative disease resulting from the misfolding and accumulation of a pathogenic protein, causing cerebellar dysfunction, and this disease currently has no effective treatments. |
2019-05-20 |
2023-08-13 |
mouse |
| b' Chen Fan, Wooyoung Choi, Weinan Sun, Juan Du, Wei L\\xc3\\xb. Structure of the human lipid-gated cation channel TRPC3. eLife. vol 7. 2019-05-15. PMID:29726814.' |
the trpc channels are crucially involved in store-operated calcium entry and calcium homeostasis, and they are implicated in human diseases such as neurodegenerative disease, cardiac hypertrophy, and spinocerebellar ataxia. |
2019-05-15 |
2023-08-13 |
human |
| Yu-Ling Wu, Jui-Chih Chang, Wei-Yong Lin, Chien-Chun Li, Mingli Hsieh, Haw-Wen Chen, Tsu-Shing Wang, Wen-Tzu Wu, Chin-San Liu, Kai-Li Li. Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway. Free radical biology & medicine. vol 115. 2019-05-03. PMID:29247688. |
polyglutamine (polyq)-expanded mutant ataxin-3 protein, which is prone to misfolding and aggregation, leads to cerebellar neurotoxicity in spinocerebellar ataxia type 3 (sca3), an inherited polyq neurodegenerative disease. |
2019-05-03 |
2023-08-13 |
drosophila_melanogaster |
| Jakub Trzesniewski, Sandrine Altmann, Levy Jäger, Josef P Kapfhamme. Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. Experimental neurology. vol 311. 2019-04-10. PMID:30312605. |
spinocerebellar ataxia type 14 (sca14) is a dominantly inherited neurodegenerative disease caused by diverse mutations in the protein kinase c gamma (pkcγ) gene which is one of the crucial signaling molecules of purkinje cells. |
2019-04-10 |
2023-08-13 |
mouse |
| Aoi Nakazono, Naoko Adachi, Hideyuki Takahashi, Takahiro Seki, Daizo Hamada, Takehiko Ueyama, Norio Sakai, Naoaki Sait. Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14. The Journal of biological chemistry. vol 293. issue 38. 2019-04-05. PMID:30093405. |
we previously reported that spinocerebellar ataxia type 14 (sca14), a dominant-inherited neurodegenerative disease that affects cerebellar purkinje cells, is characterized by the intracellular formation of neurotoxic amyloid-like aggregates of genetic variants of protein kinase cγ (pkcγ). |
2019-04-05 |
2023-08-13 |
Not clear |
| Ronald A M Buijsen, Sarah L Gardiner, Marga J Bouma, Linda M van der Graaf, Merel W Boogaard, Barry A Pepers, Bert Eussen, Annelies de Klein, Christian Freund, Willeke M C van Roon-Mo. Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B. Stem cell research. vol 29. 2019-03-22. PMID:29656178. |
generation of 3 spinocerebellar ataxia type 1 (sca1) patient-derived induced pluripotent stem cell lines lumci002-a, b, and c and 2 unaffected sibling control induced pluripotent stem cell lines lumci003-a and b. spinocerebellar ataxia type 1 (sca1) is a hereditary neurodegenerative disease caused by a cag repeat expansion in exon 8 of the atxn1 gene. |
2019-03-22 |
2023-08-13 |
Not clear |
| Hirokazu Hirai, Masanobu Kan. Type 1 metabotropic glutamate receptor and its signaling molecules as therapeutic targets for the treatment of cerebellar disorders. Current opinion in pharmacology. vol 38. 2019-03-14. PMID:29525719. |
neurodegenerative diseases such as spinocerebellar ataxias and autoantibody-associated disorders of the central nervous system often affect the cerebellum, resulting in motor deficits. |
2019-03-14 |
2023-08-13 |
Not clear |
| Joo Hyun Kim, Abigail Lukowicz, Wenhui Qu, Andrea Johnson, Marija Cvetanovi. Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner. Glia. vol 66. issue 9. 2019-02-12. PMID:30043530. |
spinocerebellar ataxia type 1 (sca1) is a fatal, dominantly inherited neurodegenerative disease caused by the expansion of cag repeats in the ataxin-1 (atxn1) gene. |
2019-02-12 |
2023-08-13 |
mouse |
| Carlos R Hernandez-Castillo, Maedbh King, Jörn Diedrichsen, Juan Fernandez-Rui. Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7. NeuroImage. Clinical. vol 20. 2019-02-05. PMID:30308379. |
spinocerebellar ataxias (scas) are a heterogeneous group of neurodegenerative diseases that selectively affect vulnerable neuronal populations in the cerebellum and other subcortical regions. |
2019-02-05 |
2023-08-13 |
Not clear |
| Yanlin Wang, Changhe Shi, Zhilei Wang, Huifang Sun, Zhihua Yang, Fan Zhang, Yutao Liu, Han Liu, Chenyang Jiang, Shoutao Zhang, Yuming Xu, Xuejun We. Generation of induced pluripotent stem cell line (ZZUi004-A) from urine sample of a patient with spinocerebellar ataxia type 3. Stem cell research. vol 28. 2018-12-31. PMID:29444500. |
spinocerebellar ataxia type 3 (sca3) is a dominantly inherited neurodegenerative disease caused by a cag repeat expansion in the region of the atxn3 gene. |
2018-12-31 |
2023-08-13 |
Not clear |