Testicular degeneration in Huntington disease

Arrasate, 2004, Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death, Nature, 431, 805, 10.1038/nature02998 Bird, 1976, Brain immunoreactive gonadotropin-releasing hormone in Huntington’s chorea and in non-choreic subjects, Nature, 260, 536, 10.1038/260536a0 Bjorkqvist, 2005, The R6/2 transgenic mouse model of Huntington’s disease develops diabetes due to deficient beta-cell mass and exocytosis, Hum. Mol. Genet., 14, 565, 10.1093/hmg/ddi053 Bjorkqvist, 2006, Progressive alterations in the hypothalamic–pituitary–adrenal axis in the R6/2 transgenic mouse model of Huntington’s disease, Hum. Mol. Genet., 15, 1713, 10.1093/hmg/ddl094 Chan, 2002, Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington’s disease, Hum. Mol. Genet., 11, 1939, 10.1093/hmg/11.17.1939 Davies, 1997, Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation, Cell, 90, 537, 10.1016/S0092-8674(00)80513-9 Farrer, 1985, Diabetes mellitus in Huntington disease, Clin. Genet., 27, 62, 10.1111/j.1399-0004.1985.tb00185.x Fusco, 1999, Cellular localization of huntingtin in striatal and cortical neurons in rats: lack of correlation with neuronal vulnerability in Huntington’s disease, J. Neurosci., 19, 1189, 10.1523/JNEUROSCI.19-04-01189.1999 Gauthier, 2004, Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules, Cell, 118, 127, 10.1016/j.cell.2004.06.018 Gunawardena, 2003, Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila, Neuron, 40, 25, 10.1016/S0896-6273(03)00594-4 Guo, 2003, In silico analysis indicates a similar gene expression pattern between human brain and testis, Cytogenet. Genome Res., 103, 58, 10.1159/000076290 Gutekunst, 1999, Nuclear and neuropil aggregates in Huntington’s disease: relationship to neuropathology, J. Neurosci., 19, 2522, 10.1523/JNEUROSCI.19-07-02522.1999 Guttman, 2000, Dynein and plus-end microtubule-dependent motors are associated with specialized Sertoli cell junction plaques (ectoplasmic specializations), J. Cell Sci., 113, 2167, 10.1242/jcs.113.12.2167 Hall, 1992, Distribution of the microtubule-dependent motors cytoplasmic dynein and kinesin in rat testis, Biol. Reprod., 46, 817, 10.1095/biolreprod46.5.817 Harper, P., 1996. Huntington’s disease, 2. Hayden, M.R., 1981. Huntington’s chorea. Hurlbert, 1999, Mice transgenic for an expanded CAG repeat in the Huntington’s disease gene develop diabetes, Diabetes, 48, 649, 10.2337/diabetes.48.3.649 Kremer, 1990, Atrophy of the hypothalamic lateral tuberal nucleus in Huntington’s disease, J. Neuropathol. Exp. Neurol., 49, 371, 10.1097/00005072-199007000-00002 Kremer, 1991, The hypothalamic lateral tuberal nucleus and the characteristics of neuronal loss in Huntington’s disease, Neurosci. Lett., 132, 101, 10.1016/0304-3940(91)90443-W Lavin, 1981, Studies of hypothalamic function in Huntington’s chorea, J. Neurol. Neurosurg. Psychiatry, 44, 414, 10.1136/jnnp.44.5.414 Leavitt, 2001, Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo, Am. J. Hum. Genet., 68, 313, 10.1086/318207 Luthi-Carter, 2002, Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain, Hum. Mol. Genet., 11, 1911, 10.1093/hmg/11.17.1911 Macdonald, 1993, A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntingtons-disease chromosomes, Cell, 72, 971, 10.1016/0092-8674(93)90585-E Mangiarini, 1996, Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice, Cell, 87, 493, 10.1016/S0092-8674(00)81369-0 Markianos, 2005, Plasma testosterone in male patients with Huntington’s disease: relations to severity of illness and dementia, Ann. Neurol., 57, 520, 10.1002/ana.20428 Mastromauro, 1989, Estimation of fertility and fitness in Huntington disease in New England, Am. J. Med. Genet., 33, 248, 10.1002/ajmg.1320330222 Miller, 1999, Rat testis motor proteins associated with spermatid translocation (dynein) and spermatid flagella (kinesin-II), Biol. Reprod., 60, 1047, 10.1095/biolreprod60.4.1047 Muir, 2001, Enzyme immunoassay of 17 beta-estradiol, estrone conjugates, and testosterone in urinary and fecal samples from male and female mice, Horm. Metab Res., 33, 653, 10.1055/s-2001-18692 Papalexi, 2005, Reduction of GnRH and infertility in the R6/2 mouse model of Huntington’s disease, Eur. J. Neurosci., 22, 1541, 10.1111/j.1460-9568.2005.04324.x Petersen, 2005, Orexin loss in Huntington’s disease, Hum. Mol. Genet., 14, 39, 10.1093/hmg/ddi004 Podolsky, 1972, Increased frequency of diabetes mellitus in patients with Huntington’s chorea, Lancet, 1, 1356, 10.1016/S0140-6736(72)91092-6 Pridmore, 1991, The fertility of HD-affected individuals in Tasmania, Aust. N. Z. J. Psychiatry, 25, 262, 10.1080/00048679109077743 Ribchester, 2004, Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington’s disease mutation, Eur. J. Neurosci., 20, 3092, 10.1111/j.1460-9568.2004.03783.x Russell, 1981, Effect of the microtubule disrupting agents, colchicine and vinblastine, on seminiferous tubule structure in the rat, Tissue Cell, 13, 349, 10.1016/0040-8166(81)90010-0 Sathasivam, 1999, Formation of polyglutamine inclusions in non-CNS tissue, Hum. Mol. Genet., 8, 813, 10.1093/hmg/8.5.813 Selva, 2000, Meiotic arrest and germ cell apoptosis in androgen-binding protein transgenic mice, Endocrinology, 141, 1168, 10.1210/endo.141.3.7383 Selva, 2004, The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility, J. Lipid Res., 45, 1040, 10.1194/jlr.M400007-JLR200 Shokeir, 1975, Investigation on Huntington’s disease in the Canadian Prairies II. Fecundity and fitness, Clin. Genet., 7, 349, 10.1111/j.1399-0004.1975.tb00341.x Slow, 2003, Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease, Hum. Mol. Genet., 12, 1555, 10.1093/hmg/ddg169 Slow, 2005, Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions, Proc. Natl. Acad. Sci. U. S. A., 102, 11402, 10.1073/pnas.0503634102 Strand, 2005, Gene expression in Huntington’s disease skeletal muscle: a potential biomarker, Hum. Mol. Genet., 14, 1863, 10.1093/hmg/ddi192 Sugars, 2003, Transcriptional abnormalities in Huntington disease, Trends Genet., 19, 233, 10.1016/S0168-9525(03)00074-X Szebenyi, 2003, Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport, Neuron, 40, 41, 10.1016/S0896-6273(03)00569-5 Trushina, 2004, Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro, Mol. Cell. Biol., 24, 8195, 10.1128/MCB.24.18.8195-8209.2004 Van Raamsdonk, 2005, Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease, Hum. Mol. Genet., 14, 3823, 10.1093/hmg/ddi407 Van Raamsdonk, 2005, Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease, Hum. Mol. Genet., 14, 1379, 10.1093/hmg/ddi147 Van Raamsdonk, 2005, Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington’s disease, J. Neurosci., 25, 4169, 10.1523/JNEUROSCI.0590-05.2005 Van Raamsdonk, 2006, Body weight is modulated by levels of full-length Huntingtin, Hum. Mol. Genet., 15, 1513, 10.1093/hmg/ddl072 Vogl, 1983, Colchicine-induced changes in the cytoskeleton of the golden-mantled ground squirrel (Spermophilus lateralis) Sertoli cells, Am. J. Anat., 168, 99, 10.1002/aja.1001680110 Vonsattel, 1998, Huntington disease, J. Neuropathol. Exp.Neurol., 57, 369, 10.1097/00005072-199805000-00001 Weiss, 1997, Pre- and postmeiotic expression of male germ cell-specific genes throughout 2-week cocultures of rat germinal and Sertoli cells, Biol. Reprod., 57, 68, 10.1095/biolreprod57.1.68