| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hidenori Homma, Yuki Yoshioka, Kyota Fujita, Shinichi Shirai, Yuka Hama, Hajime Komano, Yuko Saito, Ichiro Yabe, Hideyuki Okano, Hidenao Sasaki, Hikari Tanaka, Hitoshi Okazaw. Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage. Communications biology. vol 7. issue 1. 2024-04-09. PMID:38594382. |
we investigated the earliest molecular pathology of spinocerebellar ataxia type 1 (sca1), a rare familial neurodegenerative disease that primarily induces death and dysfunction of cerebellum purkinje cells. |
2024-04-09 |
2024-04-12 |
mouse |
| N Déglo. Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3. Revue neurologique. 2024-04-05. PMID:38580500. |
spinocerebellar ataxia type 3 (sca3), also known as machado-joseph disease, is a neurodegenerative disease caused by expanded polyglutamine repeats in exon 10 of the ataxin-3 gene, atxn3. |
2024-04-05 |
2024-04-10 |
Not clear |
| Lisa Duvick, W Michael Southern, Kellie A Benzow, Zoe N Burch, Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie A Sheeler, Orion Rainwater, Shannah Serres, Erin B Lind, Tessa Nichols-Meade, Brennon O'Callaghan, Huda Y Zoghbi, Marija Cvetanovic, Vanessa C Wheeler, James M Ervasti, Michael D Koob, Harry T Or. Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease. JCI insight. 2024-03-21. PMID:38512434. |
spinocerebellar ataxia type 1 (sca1) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the widely expressed ataxin-1 (atxn1) protein. |
2024-03-21 |
2024-03-24 |
mouse |
| Federica Pilotto, Deepika M Chellapandi, Hélène Pucci. Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia. Trends in molecular medicine. 2024-01-25. PMID:38272714. |
friedreich ataxia (fa) is an inherited autosomal recessive neurodegenerative disease (ndd) characterized primarily by progressive sensory and spinocerebellar ataxia associated with hypertrophic cardiomyopathy. |
2024-01-25 |
2024-01-28 |
Not clear |
| Sara Duarte-Silva, Jorge Diogo Da Silva, Daniela Monteiro-Fernandes, Marta Daniela Costa, Andreia Neves-Carvalho, Mafalda Raposo, Carina Soares-Cunha, Joana S Correia, Gonçalo Nogueira-Gonçalves, Henrique S Fernandes, Stéphanie Oliveira, Ana Rita Ferreira-Fernandes, Fernando Rodrigues, Joana Pereira-Sousa, Daniela Vilasboas-Campos, Sara Guerreiro, Jonas Campos, Liliana Meireles-Costa, Cecilia Mp Rodrigues, Stephanie Cabantous, Sérgio F Sousa, Manuela Lima, Andreia Teixeira-Castro, Patricia Macie. Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3. The Journal of clinical investigation. 2024-01-16. PMID:38227368. |
spinocerebellar ataxia type 3 (sca3) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the ataxin-3 (atxn3) gene. |
2024-01-16 |
2024-01-18 |
mouse |
| Ioannis Gkekas, Aimilia-Christina Vagiona, Nikolaos Pechlivanis, Georgia Kastrinaki, Katerina Pliatsika, Sebastian Iben, Konstantinos Xanthopoulos, Fotis E Psomopoulos, Miguel A Andrade-Navarro, Spyros Petraki. Intranuclear inclusions of polyQ-expanded ATXN1 sequester RNA molecules. Frontiers in molecular neuroscience. vol 16. 2023-12-21. PMID:38125008. |
spinocerebellar ataxia type 1 (sca1) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (cag) repeat expansion in the atxn1 gene. |
2023-12-21 |
2023-12-23 |
human |
| Jessica R Blount, Nikhil C Patel, Kozeta Libohova, Autumn L Harris, Wei-Ling Tsou, Alyson Sujkowski, Sokol V Tod. Lysine 117 on ataxin-3 modulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3. Journal of the neurological sciences. vol 454. 2023-10-21. PMID:37865002. |
ataxin-3 (atxn3) is a deubiquitinase with a polyglutamine (polyq) repeat tract whose abnormal expansion causes the neurodegenerative disease, spinocerebellar ataxia type 3 (sca3; also known as machado-joseph disease). |
2023-10-21 |
2023-11-08 |
human |
| Carmen Nanclares, Jose Antonio Noriega-Prieto, Francisco E Labrada-Moncada, Marija Cvetanovic, Alfonso Araque, Paulo Kofuj. Altered calcium signaling in Bergmann glia contributes to spinocerebellar ataxia type-1 in a mouse model of SCA1. Neurobiology of disease. 2023-10-06. PMID:37802154. |
spinocerebellar ataxia type 1 (sca1) is a neurodegenerative disease caused by an abnormal expansion of glutamine (q) encoding cag repeats in the ataxin1 (atxn1) gene and characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. |
2023-10-06 |
2023-10-15 |
mouse |
| Chengqian Zhou, Hans B Liu, Fatemeh Jahanbakhsh, Leon Deng, Bin Wu, Mingyao Ying, Russell L Margolis, Pan P L. Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12. Movement disorders : official journal of the Movement Disorder Society. 2023-09-22. PMID:37735923. |
spinocerebellar ataxia type 12 (sca12) is a neurodegenerative disease caused by expansion of a cag repeat in the ppp2r2b gene. |
2023-09-22 |
2023-10-07 |
Not clear |
| Alexandra E Atang, Amanda R Keller, Sarah A Denha, Adam W Aver. Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin. bioRxiv : the preprint server for biology. 2023-08-31. PMID:36865188. |
spinocerebellar ataxia type 5 (sca5) is a neurodegenerative disease caused by mutations in the sptbn2 gene encoding the cytoskeletal protein β-iii-spectrin. |
2023-08-31 |
2023-09-07 |
Not clear |
| Nele Leonie Kaul, Coline M Diebolt, Carola Meier, Thomas Tscherni. Transient receptor potential channel 3 in human liver and gallbladder - An investigation in body donors. Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft. 2023-08-26. PMID:37633502. |
further work has already confirmed the relevance of trpc3 in the context of neurodegenerative diseases, such as spinocerebellar ataxia, and carcinogenic entities, such as ovarian carcinoma. |
2023-08-26 |
2023-09-07 |
mouse |
| Daniela Cunha-Garcia, Daniela Monteiro-Fernandes, Joana Sofia Correia, Andreia Neves-Carvalho, Ana Catarina Vilaça-Ferreira, Sónia Guerra-Gomes, João Filipe Viana, João Filipe Oliveira, Andreia Teixeira-Castro, Patrícia Maciel, Sara Duarte-Silv. Genetic Ablation of Inositol 1,4,5-Trisphosphate Receptor Type 2 (IP International journal of molecular sciences. vol 24. issue 13. 2023-07-14. PMID:37445783. |
genetic ablation of inositol 1,4,5-trisphosphate receptor type 2 (ip spinocerebellar ataxia type 3 (sca3) is a rare neurodegenerative disease caused by an abnormal polyglutamine expansion within the ataxin-3 protein (atxn3). |
2023-07-14 |
2023-08-14 |
Not clear |
| Martina Sucha, Simona Benediktova, Filip Tichanek, Jan Jedlicka, Stepan Kapl, Dana Jelinkova, Zdenka Purkartova, Jan Tuma, Jitka Kuncova, Jan Cendeli. Experimental Treatment with Edaravone in a Mouse Model of Spinocerebellar Ataxia 1. International journal of molecular sciences. vol 24. issue 13. 2023-07-14. PMID:37445867. |
nevertheless, edaravone has not been tested yet in the context of spinocerebellar ataxia 1 (sca1), an incurable neurodegenerative disease characterized mainly by cerebellar disorder, with a strong contribution of inflammation and mitochondrial dysfunction. |
2023-07-14 |
2023-08-14 |
mouse |
| Josef P Kapfhammer, Etsuko Shimobayash. Viewpoint: spinocerebellar ataxias as diseases of Purkinje cell dysfunction rather than Purkinje cell loss. Frontiers in molecular neuroscience. vol 16. 2023-07-10. PMID:37426070. |
spinocerebellar ataxias (scas) are a group of hereditary neurodegenerative diseases mostly affecting cerebellar purkinje cells caused by a wide variety of different mutations. |
2023-07-10 |
2023-08-14 |
Not clear |
| Naoum P Issa, Serdar Aydin, Shail Bhatnagar, Nicholas W Baumgartner, Jacquelyn Hill, Sravya Aluri, Chloe S Valentic, Eric Polley, Christopher M Gomez, Kourosh Rezani. Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study. Cerebellum (London, England). 2023-07-10. PMID:37428409. |
spinocerebellar ataxias (scas) are familial neurodegenerative diseases involving the cerebellum and spinocerebellar tracts. |
2023-07-10 |
2023-08-14 |
human |
| Libera Siciliano, Giusy Olivito, Nicole Urbini, Maria Caterina Silveri, Maria Leggi. The rising role of cognitive reserve and associated compensatory brain networks in spinocerebellar ataxia type 2. Journal of neurology. 2023-07-08. PMID:37421466. |
the present study assessed cr and its impact on cognitive abilities in spinocerebellar ataxia type 2 (sca2), which is a rare cerebellar neurodegenerative disease. |
2023-07-08 |
2023-08-14 |
Not clear |
| Jessica R Blount, Nikhil C Patel, Kozeta Libohova, Autumn L Harris, Wei-Ling Tsou, Alyson Sujkowski, Sokol V Tod. Lysine 117 on ataxin-3 modulates toxicity in bioRxiv : the preprint server for biology. 2023-07-03. PMID:37398109. |
lysine 117 on ataxin-3 modulates toxicity in ataxin-3 (atxn3) is a deubiquitinase with a polyglutamine (polyq) repeat tract whose abnormal expansion causes the neurodegenerative disease, spinocerebellar ataxia type 3 (sca3; also known as machado-joseph disease). |
2023-07-03 |
2023-08-14 |
Not clear |
| Karamazovova Simona, Matuskova Veronika, Ismail Zahinoor, Vyhnalek Marti. Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia. Neuroscience and biobehavioral reviews. 2023-05-03. PMID:37137435. |
spinocerebellar ataxias (sca) and friedreich ataxia (frda) are rare neurodegenerative diseases of the cerebellum presenting mainly with a progressive loss of gait and limb coordination, dysarthria, and other motor disturbances, but also a range of cognitive and neuropsychiatric symptoms. |
2023-05-03 |
2023-08-14 |
Not clear |
| Jessica Bux, Nesli Ece Sen, Isa-Maria Klink, Stefan Hauser, Matthis Synofzik, Ludger Schöls, Georg Auburger, Olaf Riess, Jeannette Hübener-Schmi. TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2. Molecular neurobiology. 2023-03-09. PMID:36894829. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominantly inherited neurodegenerative disease, which belongs to the trinucleotide repeat disease group with a cag repeat expansion in exon 1 of the atxn2 gene resulting in an ataxin-2 protein with an expanded polyglutamine (polyq)-stretch. |
2023-03-09 |
2023-08-14 |
human |
| Rahul Sharma, Prema Mondal, Srinivasa M Srinivasul. CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination. The FEBS journal. 2023-02-28. PMID:36853170. |
in spinocerebellar ataxia 16 (sca16), an autosomal recessive neurodegenerative disease, mutations in and aggregation of stub1 are reported. |
2023-02-28 |
2023-08-14 |
Not clear |