Chapter 28 – Rodent Models of Autosomal Dominant Primary Dystonia
作者： Janneth Oleas , Fumiaki Yokoi , Mark P. DeAndrade , Yuqing Li
DOI: 10.1016/B978-0-12-405195-9.00028-7
关键词:
摘要: Dystonia is a neurological disorder characterized by sustained muscle contractions that lead to abnormal movements and postures. Genetic rodent models have been generated for DYT1, DYT11, DYT12, DYT25 dystonias. Although these do not display overt dystonic phenotypes, they exhibit motor deficits in behavioral tests are thought represent indirect measurements of dystonia-like phenotype. Moreover, animal led deeper understanding the pathophysiology dystonia. In particular, alterations dopaminergic cholinergic systems basal ganglia. Furthermore, changes synaptic plasticity neurotransmission ganglia elucidated DYT1 dystonia models. addition, accumulating evidence has demonstrated an important role cerebellum Last, translational studies using recently potential novel therapeutic. useful investigate develop effective treatment.
elsevier.com
sci-hub.se 参考文章(183)
Nicholas J. Dickens, Scott Beatson, Chris P. Ponting, Cadherin-like domains in alpha-dystroglycan, alpha/epsilon-sarcoglycan and yeast and bacterial proteins Current Biology. ,vol. 12, ,(2002) , 10.1016/S0960-9822(02)00748-0
S.L. Drinnan, B.T. Hope, T.P. Snutch, S.R. Vincent, Golf in the basal ganglia Molecular and Cellular Neuroscience. ,vol. 2, pp. 66- 70 ,(1991) , 10.1016/1044-7431(91)90040-U
S B Bressman, N J Risch, E B Claus, P E Greene, S Fahn, R E Burke, D deLeon, M F Brin, H Shale, L A Cupples, Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. American Journal of Human Genetics. ,vol. 46, pp. 533- 538 ,(1990)
James M. Tepper, Francine Trent, Chapter 3 In vivo studies of the postnatal development of rat neostriatal neurons Progress in Brain Research. ,vol. 99, pp. 35- 50 ,(1993) , 10.1016/S0079-6123(08)61337-0
Alexander Zimprich, Monika Grabowski, Friedrich Asmus, Markus Naumann, Daniela Berg, Markus Bertram, Karl Scheidtmann, Peter Kern, Juliane Winkelmann, Bertram Müller-Myhsok, Leonhard Riedel, Matthias Bauer, Tanja Müller, Mirna Castro, Thomas Meitinger, Tim M. Strom, Thomas Gasser, Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genetics. ,vol. 29, pp. 66- 69 ,(2001) , 10.1038/NG709
Pamela J. McLean, Hibiki Kawamata, Saadat Shariff, Jeffrey Hewett, Nutan Sharma, Kenji Ueda, Xandra O. Breakefield, Bradley T. Hyman, TorsinA and heat shock proteins act as molecular chaperones: suppression of α-synuclein aggregation Journal of Neurochemistry. ,vol. 83, pp. 846- 854 ,(2002) , 10.1046/J.1471-4159.2002.01190.X
Maxim, Dobretsov, Neuronal function and alpha3 isoform of the Na/K-ATPase Frontiers in Bioscience. ,vol. 10, pp. 2373- 2396 ,(2005) , 10.2741/1704
Keiko Ikeda, Shin’Ichiro Satake, Tatsushi Onaka, Hiroki Sugimoto, Naoki Takeda, Keiji Imoto, Kiyoshi Kawakami, Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3‐deficient heterozygous mice The Journal of Physiology. ,vol. 591, pp. 3433- 3449 ,(2013) , 10.1113/JPHYSIOL.2012.247817
J Xiao, MA Nance, MS LeDoux, Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE. Clinical Genetics. ,vol. 84, pp. 276- 280 ,(2013) , 10.1111/CGE.12059
Elizabeth M McNally, Chantal T Ly, Louis M Kunkel, Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene FEBS Letters. ,vol. 422, pp. 27- 32 ,(1998) , 10.1016/S0014-5793(97)01593-7