|
Aguiar, J., Fernandez J., et al. Ubiquitous expression of human SCA2 gene under the regulation of the SCA2 self promoter cause specific Purkinje cell degeneration in transgenic mice.Neurosci Lett 392 (3): 202-206 , (2006).
Alonso I., Costa C., et al. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. J Hum Genet 50 (10): 523-529, (2005).
Andres, A. M., Lao, O., et al. Dynamics of CAG repeat loci revealed by the analysis of their variability. Hum Mutat 21 (1): 61-70, (2003).
Andrew, S. E., Goldberg, Y. P., et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington''s disease.Nat Genet 4 (4): 398-403, (1993).
Araujo, J., P. Breuer, et al. FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3. Hum Mol Genet 20 (15): 2928-2941, (2011).
Arduino, D. M., Esteves, A. R., et al. Mitochondrial fusion/fission, transport and autophagy in Parkinson''s disease: when mitochondria get nasty. Parkinsons Dis 2011: 767230, (2011).
Arrasate, M., Mitra, S., et al. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death.Nature 431 (7010): 805-810, (2004).
Basso, M., Pozzi, S., et al. Mutant copper-zinc superoxide dismutase (SOD1) induces protein secretion pathway alterations and exosome release in astrocytes: implications for disease spreading and motor neuron pathology in amyotrophic lateral sclerosis. J Biol Chem 288 (22) : 15699- 711, (2013).
Bento, C. F., Puri, C., et al. The role of membrane-trafficking small GTPases in the regulation of autophagy. J Cell Sci 126 (Pt 5): 1059-1069, (2013).
Bettencourt, C. and Lima M. Machado-Joseph Disease: from first descriptions to new perspectives.Orphanet J Rare Dis (6): 35, (2011).
Boeddrich, A., Gaumer, S., et al. An arginine/lysine-rich motif is crucial for VCP/p97-mediated modulation of ataxin-3 fibrillogenesis. EMBO J 25 (7): 1547-1558, (2006).
Boje, K. M. and Arora, P. K. Microglial-produced nitric oxide and reactive nitrogen oxides mediate neuronal cell death. Brain Res 587 (2): 250-256, (1992).
Brusco, A., Gellera, C., et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.Arch Neurol 61 (5): 727-733, (2004).
Cemal, C. K., Carroll, C. J., et al. YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.Hum Mol Genet 11 (9) : 1075-1094, (2002). Ciosk, R., DePalma, M., et al. ATX-2, the C. elegans ortholog of ataxin 2, functions in translational regulation in the germline.Development 131 (19): 4831-4841, (2004).
David, G., Abbas, N., et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.Nat Genet 17 (1): 65-70, (1997).
Ding, W. X., Manley, S., et al. The emerging role of autophagy in alcoholic liver disease.Exp Biol Med (Maywood) 236 (5) : 546-556, (2011).
Evers, M. M., Tran, H. D., et al. Ataxin-3 protein modification as a treatment strategy for Spinocerebellar Ataxia type 3: Removal of the CAG containing exon.Neurobiol Dis 58C:49-56, (2013).
Filomeni, G., Graziani, I., et al. Neuroprotection of kaempferol by autophagy in models of rotenone-mediated acute toxicity: possible implications for Parkinson''s disease. Neurobiol Aging 33 (4): 767-785, (2012).
Giuliani, C. M. and C. R. Dass Autophagy and cancer: taking the ''toxic'' out of cytotoxics.J Pharm Pharmacol 65 (6): 777-789, (2013).
Gotoh, H., Takahashi, T., et al. Dissection of the superior cerebellar artery: a report of two cases and review of the literature.J Clin Neurosci 11 (2): 196-199, (2004).
Holmes, S. E., O''Hearn, E. E., et al. Expansion of a novel CAG trinucleotide repeat in the 5'' region of PPP2R2B is associated with SCA12.Nat Genet 23 (4) : 391-392, (1999).
Huynh, D. P., Figueroa, K. et al. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet 26 (1) : 44-50, (2000).
Ikeda, Y., Dick K. A., et al. Spectrin mutations cause spinocerebellar ataxia type 5.Nat Genet 38 (2) : 184-190, (2006).
Imbert, G., Saudou, F. et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14 (3) : 285-291, (1996).
Jaeger, P. A. and Wyss-Coray, T. All-you-can-eat: autophagy in neurodegeneration and neuroprotection. Mol Neurodegener 4: 16, (2009).
Jiang, H., Tang, B., et al. Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.J Neurol Sci 236(1-2): 25-29, (2005).
Kawaguchi, Y., Okamoto, T., et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.Nat Genet 8 (3): 221-228, (1994).
Krick, R., Muhe, Y., et al. Piecemeal microautophagy of the nucleus: genetic and morphological traits. Autophagy 5 (2) : 270-272, (2009).
Kroemer, G. and White, E., et al. Autophagy for the avoidance of degenerative, inflammatory, infectious, and neoplastic disease.Curr Opin Cell Biol 22 (2) : 121-123, (2010).
Kvam, E. and Goldfarb D. S. Nucleus-vacuole junctions and piecemeal microautophagy of the nucleus in S. cerevisiae.Autophagy 3 (2) : 85-92, (2007).
Lastres-Becker, I., Rub, U., et al. Spinocerebellar ataxia 2 (SCA2). Cerebellum 7 (2) : 115-124, (2008).
Lebovitz, C. B., Bortnik, S. B., et al. Here, there be dragons: charting autophagy-related alterations in human tumors. Clin Cancer Res 18 (5) : 1214-1226, (2012).
Lu, J. H., Tan, J. Q., et al. Isorhynchophylline, a natural alkaloid, promotes the degradation of alpha-synuclein in neuronal cells via inducing autophagy. Autophagy 8 (1) : 98-108, (2012).
Luc, R. and Vergely, C. Forgotten radicals in biology. Int J Biomed Sci 4 (4) : 255-259, (2008).
Maciel, P., Gaspar, C., et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 57 (1) : 54-61, (1995).
Maiuri, M. C., Zalckvar, E., et al. Self-eating and self-killing: crosstalk between autophagy and apoptosis. Nat Rev Mol Cell Biol 8 (9) : 741-752, (2007). Majeski, A. E. and Dice, J. F. Mechanisms of chaperone-mediated autophagy. Int J Biochem Cell Biol 36 (12) : 2435-2444, (2004).
Mao, R., Aylsworth, A. S., et al. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet 110 (4) : 338-345, (2002).
Markaki, M. and Tavernarakis, N. Metabolic Control by Target of Rapamycin and Autophagy during Ageing - A Mini-Review. Gerontology. 59 (4) : 340-348, (2013).
Maruyama, H., Nakamura, S., et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 4 (5) : 807-812, (1995).
McCoy, M. K. and Cookson, M. R. Mitochondrial quality control and dynamics in Parkinson''s disease. Antioxid Redox Signal 16 (9) : 869-882, (2012).
Melendez, A. and Levine, B. Autophagy in C. elegans. WormBook: 1-26, (2009).
Menzies, F. M., Huebener, J., et al. Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain 133 (Pt 1) : 93-104, (2010).
Mitsui, K., Nakayama, H., et al. Purification of polyglutamine aggregates and identification of elongation factor-1alpha and heat shock protein 84 as aggregate-interacting proteins. J Neurosci 22 (21) : 9267-9277, (2002).
Moseley, M. L., Benzow, K. A., et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 51 (6) : 1666-1671, (1998).
Nakamura, K., Jeong, S. Y., et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10 (14) : 1441-1448, (2001).
Nascimento-Ferreira, I., Santos-Ferreira, T., et al. Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease. Brain 134 (Pt 5) : 1400-1415, (2011).
Ng, H., Pulst, S. M., et al. Ataxin-2 mediated cell death is dependent on domains downstream of the polyQ repeat. Exp Neurol 208 (2) : 207-215, (2007).
Nikali, K., Isosomppi, J., et al. Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39 (2) : 185-191, (1997).
Nobrega, C., Nascimento-Ferreira, I., et al. Overexpression of Mutant Ataxin-3 in Mouse Cerebellum Induces Ataxia and Cerebellar Neuropathology. Cerebellum, (2012).
Nobrega, C., Nascimento-Ferreira, I., et al. Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice. PLoS One 8 (1) : e52396, (2013).
Perucho, J., Casarejos, M. J., et al. Trehalose protects from aggravation of amyloid pathology induced by isoflurane anesthesia in APP(swe) mutant mice. Curr Alzheimer Res 9 (3) : 334-343, (2012).
Pivtoraiko, V. N., Harrington, A., J. et al. Low-dose bafilomycin attenuates neuronal cell death associated with autophagy-lysosome pathway dysfunction. J Neurochem 114 (4) : 1193-1204, (2010).
Pulst, S. M., Nechiporuk, A., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14 (3) : 269-276, (1996).
Ralser, M., Albrecht, M., et al. An integrative approach to gain insights into the cellular function of human ataxin-2. J Mol Biol 346 (1) : 203-214, (2005).
Ranum, L. P., Chung, M. Y., et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet 55 (2) : 244-252, (1994).
Riess, O., Rub, U., et al. SCA3: neurological features, pathogenesis and animal models. Cerebellum 7 (2) : 125-137, (2008).
Rodriguez-Enriquez, S., Kim, I., et al. Tracker dyes to probe mitochondrial autophagy (mitophagy) in rat hepatocytes. Autophagy 2 (1) : 39-46, (2006).
Rub, U., Burk, K., et al. Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. Neurology 63 (7) : 1258-1263, (2004).
Sachdev, H. S., Puri, M. P., et al. Acute cerebellar ataxia in typhoid fever. Indian Pediatr 19 (7) : 639-640, (1982).
Saleem, Q., Choudhry, S., et al. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet 106 (2) : 179-187, (2000).
Sanpei, K., Takano, H., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14 (3) : 277-284, (1996).
Satterfield, T. F., Jackson, S. M., et al. A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation. Genetics 162 (4) : 1687-1702, (2002).
Schmidt, T., Lindenberg, K. S., et al. Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Ann Neurol 51 (3) : 302-310, (2002).
Schols, L., Gispert, S., et al. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol 54 (9) : 1073-1080, (1997).
Shacka, J. J., Klocke, B. J., et al. Bafilomycin A1 inhibits chloroquine-induced death of cerebellar granule neurons. Mol Pharmacol 69 (4) : 1125-1136, (2006).
Sorolla, M. A., Reverter-Branchat, G.,et al. Proteomic and oxidative stress analysis in human brain samples of Huntington disease. Free Radic Biol Med 45 (5) : 667-678, (2008).
Steele, J. W., Ju, S., et al. Latrepirdine stimulates autophagy and reduces accumulation of alpha-synuclein in cells and in mouse brain. Mol Psychiatry, (2012).
Storey, E., du Sart, D., et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 95 (4) : 351-357, (2000).
Swisher, K. D. and Parker, R. Localization to, and effects of Pbp1, Pbp4, Lsm12, Dhh1, and Pab1 on stress granules in Saccharomyces cerevisiae. PLoS One 5 (4) : e10006, (2010).
Takiyama, Y., Igarashi, S., et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4 (7) : 1137-1146, (1995).
Takiyama, Y., Nishizawa, M., et al. The gene for Machado-Joseph disease maps to human chromosome 14q." Nat Genet 4 (3) : 300-304, (1993).
Teive, H. A. Spinocerebellar ataxias." Arq Neuropsiquiatr 67 (4) : 1133-1142, (2009).
Tharun, S. Roles of eukaryotic Lsm proteins in the regulation of mRNA function. Int Rev Cell Mol Biol 272: 149-189, (2009).
Trottier, Y., Lutz, Y., et al. Polyglutamine expansion as a pathological epitope in Huntington''s disease and four dominant cerebellar ataxias. Nature 378 (6555) : 403-406, (1995).
Trushina, E. and McMurray, C. T. Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases. Neuroscience 145 (4) : 1233-1248, (2007).
Tsai, H. F., Liu, C. S., et al. Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3. J Clin Lab Anal 17 (5) : 195-200, (2003).
van Duijn, de Knijff, C. M., P., et al. Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer''s disease. Nat Genet 7 (1) : 74-78, (1994).
Velazquez-Perez, L., Rodriguez-Labrada, R., et al. A comprehensive review of spinocerebellar ataxia type 2 in Cuba. Cerebellum 10 (2) : 184-198, (2011).
Velazquez-Perez, L., Seifried, C., et al. Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol 56 (3) : 444-447, (2004).
Verkerk, A. J., Pieretti, M., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65 (5) : 905-914, (1991).
Villace, P., M. Marion, R., et al. The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs. Nucleic Acids Res 32 (8) : 2411-2420, (2004).
Wada, Y., Sun-Wada, G. H., et al. Microautophagy in the visceral endoderm is essential for mouse early development. Autophagy 9 (2) : 252-254, (2013).
Wadia, N. H. and Swami, R. K. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain 94 (2) : 359-374, (1971).
Wen, F. C., Li, Y. H., et al. Down-regulation of heat shock protein 27 in neuronal cells and non-neuronal cells expressing mutant ataxin-3. FEBS Lett 546 (2-3) : 307-314, (2003).
Wullner, U. Genes implicated in the pathogenesis of spinocerebellar ataxias. Drugs Today (Barc) 39 (12) : 927-937, (2003).
Wyttenbach, A., Sauvageot, O., et al. Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin. Hum Mol Genet 11 (9) : 1137-1151, (2002).
Wyttenbach, A., Swartz, J., et al. Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington''s disease. Hum Mol Genet 10 (17) : 1829-1845, (2001).
Yabe, I., Sasaki, H., et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 60 (12) : 1749-1751, (2003).
Yu, Y. C., Kuo, C. L., et al. Decreased antioxidant enzyme activity and increased mitochondrial DNA damage in cellular models of Machado-Joseph disease. J Neurosci Res 87 (8) : 1884-1891, (2009).
Zhang, S. P., Niu, Y. N., et al. Role of autophagy in acute myeloid leukemia therapy. Chin J Cancer 32 (3) : 130-135, (2013).
Zhu, J. H., Horbinski, C., et al. Regulation of autophagy by extracellular signal-regulated protein kinases during 1-methyl -4-phenylpyridin ium–induced cell death. Am J Pathol 170 (1) : 75-86, (2007).
Zhuchenko, O., Bailey, J., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15 (1) : 62-69, (1997).
Zortea, M., Armani, M., et al. Prevalence of inherited ataxias in the province of Padua, Italy. Neuroepidemiology 23 (6) : 275-280, (2004).
Zu, L., Figueroa, K. P., et al. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 64 (2) : 594-599, (1999).
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