| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Takashi Maejima, Patric Wollenweber, Lena U C Teusner, Jeffrey L Noebels, Stefan Herlitze, Melanie D Mar. Postnatal loss of P/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 33. issue 12. 2013-05-28. PMID:23516282. |
postnatal loss of p/q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic cacna1a mutation phenotype of ataxia and seizures in mice. |
2013-05-28 |
2023-08-12 |
mouse |
| Zhenyu Gao, Boyan Todorov, Curtis F Barrett, Stijn van Dorp, Michel D Ferrari, Arn M J M van den Maagdenberg, Chris I De Zeeuw, Freek E Hoebee. Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 32. issue 44. 2013-01-04. PMID:23115190. |
the current data suggest that abnormalities in purkinje cell firing contributes to cerebellar ataxia induced by the s218l mutation and they advocate a general therapeutic approach in that targeting ca(2+)-dependent k(+) channels may be beneficial for treating ataxia not only in patients suffering from a decreased ca(2+) influx, but also in those suffering from an increased ca(2+) influx in their purkinje cells. |
2013-01-04 |
2023-08-12 |
mouse |
| X Zhao, S K Onteru, K E Dittmer, K Parton, H T Blair, M F Rothschild, D J Garric. A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease. Heredity. vol 109. issue 3. 2012-12-19. PMID:22588130. |
mutations in this gene have been shown to be related to purkinje cell degeneration (pcd) phenotypes including ataxia in mice. |
2012-12-19 |
2023-08-12 |
mouse |
| Kei Watase, Kinya Ishikawa, Hidehiro Mizusaw. [SCA6: From gene identification to recent progress on pathogenesis]. Rinsho shinkeigaku = Clinical neurology. vol 50. issue 11. 2012-09-17. PMID:21921472. |
spinocerebellar ataxia type 6 (sca6) is one of the common dominantly inherited ataxias in japan, featuring late-onset ataxia and selective purkinje cell (pc) degeneration. |
2012-09-17 |
2023-08-12 |
Not clear |
| Elizabeth D Buttermore, Claire Piochon, Michael L Wallace, Benjamin D Philpot, Christian Hansel, Manzoor A Bha. Pinceau organization in the cerebellum requires distinct functions of neurofascin in Purkinje and basket neurons during postnatal development. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 32. issue 14. 2012-05-29. PMID:22492029. |
loss of nfasc in both purkinje and basket neurons caused abnormal basket axon collateral branching and targeting to purkinje soma/ais, leading to extensive pinceau disorganization, purkinje neuron degeneration, and severe ataxia. |
2012-05-29 |
2023-08-12 |
mouse |
| Martine Girard, Roxanne Larivière, David A Parfitt, Emily C Deane, Rebecca Gaudet, Nadya Nossova, Francois Blondeau, George Prenosil, Esmeralda G M Vermeulen, Michael R Duchen, Andrea Richter, Eric A Shoubridge, Kalle Gehring, R Anne McKinney, Bernard Brais, J Paul Chapple, Peter S McPherso. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 5. 2012-03-30. PMID:22307627. |
mitochondrial dysfunction and purkinje cell loss in autosomal recessive spastic ataxia of charlevoix-saguenay (arsacs). |
2012-03-30 |
2023-08-12 |
mouse |
| Stephanie A Furrer, Mathini S Mohanachandran, Sarah M Waldherr, Christopher Chang, Vincent A Damian, Bryce L Sopher, Gwenn A Garden, Albert R La Spad. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 31. issue 45. 2012-01-04. PMID:22072678. |
we previously reported that directed expression of polyq-ataxin-7 in bergmann glia (bg) in transgenic mice leads to ataxia and non-cell-autonomous purkinje cell (pc) degeneration. |
2012-01-04 |
2023-08-12 |
mouse |
| William Wisden, Andrew J Murray, Christina McClure, Peer Wulf. Studying Cerebellar Circuits by Remote Control of Selected Neuronal Types with GABA(A) Receptors. Frontiers in molecular neuroscience. vol 2. 2011-07-14. PMID:20076763. |
however, in pc-deltagamma2 mice the baseline vor reflex was only mildly affected; indeed pc-deltagamma2 mice show no ataxia or gait abnormalities, suggesting that mli control of purkinje cell activity is either not involved in ongoing motor tasks or that the system compensates for its loss. |
2011-07-14 |
2023-08-12 |
mouse |
| Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P C Van de Warrenburg, Roman A Zubarev, Berry Kremer, Pamela E Knapp, Kurt F Hauser, Cisca Wijmenga, Fred Nyberg, Richard J Sinke, Dineke S Verbee. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. American journal of human genetics. vol 87. issue 5. 2011-01-24. PMID:21035104. |
thus, alterations in dyn a activities and/or impairment of secretory pathways by mutant pdyn may lead to glutamate neurotoxicity, which underlies purkinje cell degeneration and ataxia. |
2011-01-24 |
2023-08-12 |
Not clear |
| Xinjie Xu, Rajendra Kedlaya, Hitoshi Higuchi, Sakae Ikeda, Monica J Justice, Vijayasaradhi Setaluri, Akihiro Iked. Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration. PLoS genetics. vol 6. issue 5. 2010-09-13. PMID:20502676. |
nur17 mutant mice exhibit both coat-color dilution and ataxia due to purkinje cell degeneration in the cerebellum. |
2010-09-13 |
2023-08-12 |
mouse |
| Stéphane Heitz, Nancy J Grant, Raphael Leschiera, Anne-Marie Haeberlé, Valérie Demais, Guy Bombarde, Yannick Baill. Autophagy and cell death of Purkinje cells overexpressing Doppel in Ngsk Prnp-deficient mice. Brain pathology (Zurich, Switzerland). vol 20. issue 1. 2010-07-30. PMID:19055638. |
in ngsk prion protein (prp)-deficient mice (np(0/0)), ectopic expression of prp-like protein doppel (dpl) in central neurons induces significant purkinje cell (pc) death resulting in late-onset ataxia. |
2010-07-30 |
2023-08-12 |
mouse |
| Tomoji Mashimo, Ouadah Hadjebi, Fabiola Amair-Pinedo, Toshiko Tsurumi, Francina Langa, Tadao Serikawa, Constantino Sotelo, Jean-Louis Guénet, Jose Luis Ros. Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase. PLoS genetics. vol 5. issue 12. 2010-03-22. PMID:20041218. |
here, we report the characterization of a recessive mutation named tambaleante, which causes progressive purkinje cell degeneration leading to severe ataxia with reduced growth and lifespan in homozygous mice aged over two months. |
2010-03-22 |
2023-08-12 |
mouse |
| Yongshun Lin, Lijie Chen, Chunhong Lin, Yongde Luo, Robert Y L Tsai, Fen Wan. Neuron-derived FGF9 is essential for scaffold formation of Bergmann radial fibers and migration of granule neurons in the cerebellum. Developmental biology. vol 329. issue 1. 2009-05-19. PMID:19232523. |
fgf9-null mice showed severe ataxia associated with disrupted bergmann fiber scaffold formation, impaired granule neuron migration, and upset purkinje cell maturation. |
2009-05-19 |
2023-08-12 |
mouse |
| Gregory D Ford, Byron D Ford, Ernest C Steele, Alicia Gates, Darryl Hood, Mika A B Matthews, Sophia Mirza, Peter R MacLeis. Analysis of transcriptional profiles and functional clustering of global cerebellar gene expression in PCD3J mice. Biochemical and biophysical research communications. vol 377. issue 2. 2008-12-05. PMID:18930027. |
the purkinje cell degeneration (pcd) mutant mouse is characterized by a degeneration of cerebellar purkinje cells and progressive ataxia. |
2008-12-05 |
2023-08-12 |
mouse |
| Daisuke Yoshikawa, Naohiro Yamaguchi, Daisuke Ishibashi, Hitoki Yamanaka, Nobuhiko Okimura, Yoshitaka Yamaguchi, Tsuyoshi Mori, Hironori Miyata, Kazuto Shigematsu, Shigeru Katamine, Suehiro Sakaguch. Dominant-negative effects of the N-terminal half of prion protein on neurotoxicity of prion protein-like protein/doppel in mice. The Journal of biological chemistry. vol 283. issue 35. 2008-10-03. PMID:18562311. |
prion protein-like protein/doppel is neurotoxic, causing ataxia and purkinje cell degeneration in mice, whereas prion protein antagonizes doppel-induced neurodegeneration. |
2008-10-03 |
2023-08-12 |
mouse |
| Hai-xia Lu, Hannah Levis, Nabil Melhem, Terry Parke. Toxin-produced Purkinje cell death: a model for neural stem cell transplantation studies. Brain research. vol 1207. 2008-08-13. PMID:18374311. |
purkinje cell loss is the hallmark of the cerebellar ataxias. |
2008-08-13 |
2023-08-12 |
rat |
| Masashiro Sugawara, Chizu Wada, Satoshi Okawa, Michio Kobayashi, Masato Sageshima, Tsuyoshi Imota, Itaru Toyoshim. Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia. European neurology. vol 59. issue 1-2. 2008-02-05. PMID:17917453. |
purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia. |
2008-02-05 |
2023-08-12 |
Not clear |
| K A Aromolaran, K A Benzow, M D Koob, E S Piedras-Renterí. The Kelch-like protein 1 modulates P/Q-type calcium current density. Neuroscience. vol 145. issue 3. 2007-06-13. PMID:17289272. |
targeted deletion of the klhl1 gene in purkinje neurons results in dendritic deficits in these neurons, abnormal gait, and progressive loss of motor coordination in mice [he y, zu t, benzow ka, orr ht, clark hb, koob md (2006) targeted deletion of a single sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and purkinje cell dendritic deficits. |
2007-06-13 |
2023-08-12 |
mouse |
| R R Laposa, E J Huang, J E Cleave. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 4. 2007-03-01. PMID:17229834. |
a subset of animals heterozygous for csb and xpc deficiencies was more mildly affected, demonstrating ataxia and purkinje cell loss at 3 months of age. |
2007-03-01 |
2023-08-12 |
mouse |
| Yungui He, Tao Zu, Kellie A Benzow, Harry T Orr, H Brent Clark, Michael D Koo. Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 39. 2006-11-27. PMID:17005861. |
targeted deletion of a single sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and purkinje cell dendritic deficits. |
2006-11-27 |
2023-08-12 |
mouse |