| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
viewpoint: spinocerebellar ataxias as diseases of purkinje cell dysfunction rather than purkinje cell loss. |
2023-07-10 |
2023-08-14 |
Not clear |
| Enza Ferrero, Eleonora Di Gregorio, Marta Ferrero, Erika Ortolan, Young-Ah Moon, Antonella Di Campli, Lisa Pavinato, Cecilia Mancini, Debasmita Tripathy, Marta Manes, Eriola Hoxha, Chiara Costanzi, Elisa Pozzi, Matteo Rossi Sebastiano, Nico Mitro, Filippo Tempia, Donatella Caruso, Barbara Borroni, Manuela Basso, Michele Sallese, Alfredo Brusc. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot. Human genetics. 2023-05-18. PMID:37199746. |
a missense variant (c.689g>t p.gly230val) in elovl5 causes spinocerebellar ataxia subtype 38 (sca38), a neurodegenerative disorder characterized by autosomal dominant inheritance, cerebellar purkinje cell demise and adult-onset ataxia. |
2023-05-18 |
2023-08-14 |
mouse |
| Ella Borgenheimer, Katherine Hamel, Carrie Sheeler, Francisco Labrada Moncada, Kaelin Sbrocco, Ying Zhang, Marija Cvetanovi. Single nuclei RNA sequencing investigation of the Purkinje cell and glial changes in the cerebellum of transgenic Spinocerebellar ataxia type 1 mice. Frontiers in cellular neuroscience. vol 16. 2022-12-02. PMID:36457352. |
single nuclei rna sequencing investigation of the purkinje cell and glial changes in the cerebellum of transgenic spinocerebellar ataxia type 1 mice. |
2022-12-02 |
2023-08-14 |
mouse |
| Hui Ho Vanessa Chang, Anna A Cook, Alanna J Watt, Kathleen E Culle. Loss of Flocculus Purkinje Cell Firing Precision Leads to Impaired Gaze Stabilization in a Mouse Model of Spinocerebellar Ataxia Type 6 (SCA6). Cells. vol 11. issue 17. 2022-09-09. PMID:36078147. |
loss of flocculus purkinje cell firing precision leads to impaired gaze stabilization in a mouse model of spinocerebellar ataxia type 6 (sca6). |
2022-09-09 |
2023-08-14 |
mouse |
| Sharan R Srinivasan, Haoran Huang, Wei-Chih Chang, Joshua A Nasburg, Hai M Nguyen, Tim Strassmaier, Heike Wulff, Vikram G Shakkotta. Discovery of novel activators of large-conductance calcium-activated potassium channels for the treatment of cerebellar ataxia. Molecular pharmacology. 2022-04-30. PMID:35489717. |
impaired cerebellar purkinje neuron firing resulting from reduced expression of large-conductance calcium-activated potassium (bk) channels is a consistent feature in models of inherited neurodegenerative spinocerebellar ataxia (sca). |
2022-04-30 |
2023-08-13 |
mouse |
| Hanako Aoki, Miwa Higashi, Michi Okita, Noboru Ando, Shigeo Murayama, Kinya Ishikawa, Takanori Yokot. Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA) Cerebellum (London, England). 2022-01-27. PMID:35084690. |
thymidine kinase 2 and mitochondrial protein cox i in the cerebellum of patients with spinocerebellar ataxia type 31 caused by penta-nucleotide repeats (ttcca) spinocerebellar ataxia type 31 (sca31), an autosomal-dominant neurodegenerative disorder characterized by progressive cerebellar ataxia with purkinje cell degeneration, is caused by a heterozygous 2.5-3.8 kilobase penta-nucleotide repeat of (ttcca) |
2022-01-27 |
2023-08-13 |
Not clear |
| Qin-Wei Wu, Josef P Kapfhamme. Serine/threonine kinase 17b (STK17B) signalling regulates Purkinje cell dendritic development and is altered in multiple spinocerebellar ataxias. The European journal of neuroscience. vol 54. issue 7. 2021-11-01. PMID:34536317. |
serine/threonine kinase 17b (stk17b) signalling regulates purkinje cell dendritic development and is altered in multiple spinocerebellar ataxias. |
2021-11-01 |
2023-08-13 |
mouse |
| David D Bushart, Annie J Zalon, Hongjiu Zhang, Logan M Morrison, Yuanfang Guan, Henry L Paulson, Vikram G Shakkottai, Hayley S McLoughli. Antisense Oligonucleotide Therapy Targeted Against ATXN3 Improves Potassium Channel-Mediated Purkinje Neuron Dysfunction in Spinocerebellar Ataxia Type 3. Cerebellum (London, England). vol 20. issue 1. 2021-10-25. PMID:32789747. |
antisense oligonucleotide therapy targeted against atxn3 improves potassium channel-mediated purkinje neuron dysfunction in spinocerebellar ataxia type 3. |
2021-10-25 |
2023-08-13 |
mouse |
| Joshua J White, Laurens W J Bosman, Francois G C Blot, Catarina Os\\xc3\\xb3rio, Bram W Kuppens, Wilhelmina H J J Krijnen, Charlotte Andriessen, Chris I De Zeeuw, Dick Jaarsma, Martijn Schonewill. Region-specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1. Brain pathology (Zurich, Switzerland). vol 31. issue 5. 2021-10-13. PMID:33724582. |
region-specific preservation of purkinje cell morphology and motor behavior in the atxn1[82q] mouse model of spinocerebellar ataxia 1. |
2021-10-13 |
2023-08-13 |
mouse |
| Ravi Chopra, David D Bushart, John P Cooper, Dhananjay Yellajoshyula, Logan M Morrison, Haoran Huang, Hillary P Handler, Luke J Man, Warunee Dansithong, Daniel R Scoles, Stefan M Pulst, Harry T Orr, Vikram G Shakkotta. Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1. Human molecular genetics. vol 29. issue 19. 2021-08-30. PMID:32964235. |
altered capicua expression drives regional purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1. |
2021-08-30 |
2023-08-13 |
Not clear |
| Ravi Chopra, David D Bushart, John P Cooper, Dhananjay Yellajoshyula, Logan M Morrison, Haoran Huang, Hillary P Handler, Luke J Man, Warunee Dansithong, Daniel R Scoles, Stefan M Pulst, Harry T Orr, Vikram G Shakkotta. Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1. Human molecular genetics. vol 29. issue 19. 2021-08-30. PMID:32964235. |
using the atxn1[82q] model of spinocerebellar ataxia type 1 (sca1), we explored the hypothesis that regional differences in purkinje neuron degeneration could provide novel insights into selective vulnerability. |
2021-08-30 |
2023-08-13 |
Not clear |
| Chia-Wei Lin, Chia-Hao Fan, Ya-Chin Chang, Hsiu Mei Hsieh-L. ERK activation precedes Purkinje cell loss in mice with Spinocerebellar ataxia type 17. Neuroscience letters. vol 738. 2021-04-30. PMID:32877710. |
erk activation precedes purkinje cell loss in mice with spinocerebellar ataxia type 17. |
2021-04-30 |
2023-08-13 |
mouse |
| Katherine J Robinson, Maxinne Watchon, Angela S Lair. Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias. Frontiers in neuroscience. vol 14. 2020-09-28. PMID:32765211. |
factors that are known to contribute to perturbed purkinje cell function in spinocerebellar ataxias include altered gene expression resulting in altered expression or functionality of proteins and channels that modulate membrane potential, downstream impairments in intracellular calcium homeostasis and changes in glutamatergic input received from synapsing climbing or parallel fibers. |
2020-09-28 |
2023-08-13 |
Not clear |
| Kazuhiko Namikawa, Alessandro Dorigo, Marta Zagrebelsky, Giulio Russo, Toni Kirmann, Wieland Fahr, Stefan D\\xc3\\xbcbel, Martin Korte, Reinhard W K\\xc3\\xb6ste. Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 39. issue 20. 2020-06-15. PMID:30862666. |
modeling neurodegenerative spinocerebellar ataxia type 13 in zebrafish using a purkinje neuron specific tunable coexpression system. |
2020-06-15 |
2023-08-13 |
zebrafish |
| Rogier van der Stijl, Sebo Withoff, Dineke S Verbee. Corrigendum to "Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration" [Neurobiol. Dis. 2017 Dec 108 148-158]. Neurobiology of disease. vol 116. 2019-11-20. PMID:29198496. |
corrigendum to "spinocerebellar ataxia: mirnas expose biological pathways underlying pervasive purkinje cell degeneration" [neurobiol. |
2019-11-20 |
2023-08-13 |
Not clear |
| David D Bushart, Ravi Chopra, Vikrant Singh, Geoffrey G Murphy, Heike Wulff, Vikram G Shakkotta. Targeting potassium channels to treat cerebellar ataxia. Annals of clinical and translational neurology. vol 5. issue 3. 2019-11-20. PMID:29560375. |
in a mouse model of spinocerebellar ataxia type 1 (sca1), reduced potassium channel function contributes to altered membrane excitability resulting in impaired purkinje neuron spiking. |
2019-11-20 |
2023-08-13 |
mouse |
| Michela Ripolone, Valeria Lucchini, Dario Ronchi, Gigliola Fagiolari, Andreina Bordoni, Francesco Fortunato, Stefania Mondello, Sara Bonato, Mirella Meregalli, Yvan Torrente, Stefania Corti, Giacomo P Comi, Maurizio Moggio, Monica Sciacc. Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1. Journal of neuroscience research. vol 96. issue 9. 2019-11-11. PMID:30113722. |
purkinje cell cox deficiency and mtdna depletion in an animal model of spinocerebellar ataxia type 1. |
2019-11-11 |
2023-08-13 |
mouse |
| Jakub Trzesniewski, Sandrine Altmann, Levy J\\xc3\\xa4ger, 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. |
reduced purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. |
2019-04-10 |
2023-08-13 |
mouse |
| Alexander S Brown, Pratap Meera, Banu Altindag, Ravi Chopra, Emma M Perkins, Sharan Paul, Daniel R Scoles, Eric Tarapore, Jessica Magri, Haoran Huang, Mandy Jackson, Vikram G Shakkottai, Thomas S Otis, Stefan M Pulst, Scott X Atwood, Anthony E Or. MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias. Proceedings of the National Academy of Sciences of the United States of America. vol 115. issue 52. 2019-03-22. PMID:30530649. |
the genetically heterogeneous spinocerebellar ataxias (scas) are caused by purkinje neuron dysfunction and degeneration, but their underlying pathological mechanisms remain elusive. |
2019-03-22 |
2023-08-13 |
mouse |
| Miaozhen Huang, Dineke S Verbee. Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? Neuroscience letters. vol 688. 2019-02-18. PMID:29421540. |
why do so many genetic insults lead to purkinje cell degeneration and spinocerebellar ataxia? |
2019-02-18 |
2023-08-13 |
Not clear |