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Progress in Research on Motor Neuron Diseases and Therapy Perspectives"],"prefix":"10.2169","volume":"101","author":[{"given":"Gen","family":"Sobue","sequence":"first","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2) Kennedy WR, et al: Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 18: 671-680, 1968.","DOI":"10.1212\/WNL.18.7.671"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3) Schmidt BJ, et al: Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 59: 770-772, 2002.","DOI":"10.1212\/WNL.59.5.770"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4) Sobue G, et al: X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112: 209-232, 1989.","DOI":"10.1093\/brain\/112.1.209"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5) Katsuno M, et al: Molecular pathophysiology and disease-modifying therapies for spinal and bulbar muscular atrophy. Arch Neurol 69: 436-440, 2012.","DOI":"10.1001\/archneurol.2011.2308"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6) Atsuta N, et al: Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 129: 1446-1455, 2006.","DOI":"10.1093\/brain\/awl096"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7) Suzuki K, et al: CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA. Brain 131: 229-239, 2008.","DOI":"10.1093\/brain\/awm289"},{"key":"8","unstructured":"8) Hashizume A, et al: Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy. Brain [in press]."},{"key":"9","doi-asserted-by":"crossref","unstructured":"9) La Spada AR, et al: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-79, 1991.","DOI":"10.1038\/352077a0"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10) Doyu M, et al: Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 32: 707-710, 1992.","DOI":"10.1002\/ana.410320517"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11) Adachi H, et al: Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 128: 659-670, 2005.","DOI":"10.1093\/brain\/awh381"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12) Banno H, et al: Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker. Ann Neurol 59: 520-526, 2006.","DOI":"10.1002\/ana.20735"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13) Abel A, et al: Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice. Hum Mol Genet 10: 107-116, 2001.","DOI":"10.1093\/hmg\/10.2.107"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14) Katsuno M, et al: Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35: 843-854, 2002.","DOI":"10.1016\/S0896-6273(02)00834-6"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15) McManamny P, et al: A mouse model of spinal and bulbar muscular atrophy. Hum Mol Genet 11: 2103-2111, 2002.","DOI":"10.1093\/hmg\/11.18.2103"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16) Sopher BL, et al: Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Neuron 41: 687-699, 2004.","DOI":"10.1016\/S0896-6273(04)00082-0"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17) Chevalier-Larsen ES, et al: Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. J Neurosci 24: 4778-4786, 2004.","DOI":"10.1523\/JNEUROSCI.0808-04.2004"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18) Yu Z, et al: Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest 116: 2663-2672, 2006.","DOI":"10.1172\/JCI28773"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19) Monks DA, et al: Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. Proc Natl Acad Sci U S A 104: 18259-18264, 2007.","DOI":"10.1073\/pnas.0705501104"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20) Katsuno M, et al: Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 9: 768-773, 2003.","DOI":"10.1038\/nm878"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21) Banno H, et al: Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 65: 140-150, 2009.","DOI":"10.1002\/ana.21540"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22) Katsuno M, et al: Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 9: 875-884, 2010.","DOI":"10.1016\/S1474-4422(10)70182-4"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23) Fernandez-Rhodes LE, et al: Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol 10: 140-147, 2011.","DOI":"10.1016\/S1474-4422(10)70321-5"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24) Nedelsky NB, et al: Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron 67: 936-952, 2010.","DOI":"10.1016\/j.neuron.2010.08.034"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25) Orr CR, et al: An interdomain interaction of the androgen receptor is required for its aggregation and toxicity in spinal and bulbar muscular atrophy. J Biol Chem 285: 35567-35577, 2010.","DOI":"10.1074\/jbc.M110.146845"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26) Yang Z, et al: ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. Nat Med 13: 348-353, 2007.","DOI":"10.1038\/nm1547"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27) Palazzolo I, et al: Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron 63: 316-328, 2009.","DOI":"10.1016\/j.neuron.2009.07.019"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28) Adachi H, et al: CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model. J Neurosci 27: 5115-5126, 2007.","DOI":"10.1523\/JNEUROSCI.1242-07.2007"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29) Tokui K, et al: 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in a SBMA model mouse. Hum Mol Genet 18: 898-910, 2009.","DOI":"10.1093\/hmg\/ddn419"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30) Waza M, et al: 17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration. Nat Med 11: 1088-1095, 2005.","DOI":"10.1038\/nm1298"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31) Adachi H, et al: Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein. J Neurosci 23: 2203-2211, 2003.","DOI":"10.1523\/JNEUROSCI.23-06-02203.2003"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32) Adachi H, et al: CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model. J Neurosci 27: 5115-5126, 2007.","DOI":"10.1523\/JNEUROSCI.1242-07.2007"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33) Katsuno M, et al: Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease. Proc Natl Acad Sci U S A 102: 16801-16806, 2005.","DOI":"10.1073\/pnas.0506249102"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34) Montie HL, et al: Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy. Hum Mol Genet 18: 1937-1950, 2009.","DOI":"10.1093\/hmg\/ddp115"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35) Pandey UB, et al: HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature 447: 859-863, 2007.","DOI":"10.1038\/nature05853"},{"key":"36","unstructured":"36) Miyazaki Y, et al: Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2. Nat Med [in press]."},{"key":"37","doi-asserted-by":"crossref","unstructured":"37) Ranganathan S, et al: Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet 18: 27-42, 2009.","DOI":"10.1093\/hmg\/ddn310"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38) Minamiyama M, et al: Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Hum Mol Genet 13: 1183-1192, 2004.","DOI":"10.1093\/hmg\/ddh131"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39) Katsuno M, et al: Reversible disruption of dynactin 1-mediated retrograde axonal transport in polyglutamine-induced motor neuron degeneration. J Neurosci 26: 12106-12117, 2006.","DOI":"10.1523\/JNEUROSCI.3032-06.2006"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40) Katsuno M, et al: Disrupted TGF-beta signaling in spinal and bulbar muscular atrophy. 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