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Volumn 17, Issue 8, 2008, Pages 1137-1146

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; HUNTINGTIN; HUNTINGTIN ASSOCIATED PROTEIN 1; METHIONINE; MUTANT PROTEIN; THREONINE; UNCLASSIFIED DRUG;

EID: 41849097772     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn003     Document Type: Article
Times cited : (71)

References (56)
  • 2
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes. Cell, 26, 971-983.
    • (1993) Cell , vol.26 , pp. 971-983
  • 6
  • 7
    • 0030935035 scopus 로고    scopus 로고
    • The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size
    • Brinkman, R.R., Mezei, M.M., Theilmann, J., Almqvist, E. and Hayden, M.R. (1997) The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am. J. Hum Genet., 60, 1202-1210.
    • (1997) Am. J. Hum Genet , vol.60 , pp. 1202-1210
    • Brinkman, R.R.1    Mezei, M.M.2    Theilmann, J.3    Almqvist, E.4    Hayden, M.R.5
  • 8
    • 0028815287 scopus 로고
    • Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease
    • Lucotte, G., Turpin, J.C., Riess, O., Epplen, J.T., Siedlaczk, I., Loirat, F. and Hazout, S. (1995) Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease. Hum. Genet., 95, 231-232.
    • (1995) Hum. Genet , vol.95 , pp. 231-232
    • Lucotte, G.1    Turpin, J.C.2    Riess, O.3    Epplen, J.T.4    Siedlaczk, I.5    Loirat, F.6    Hazout, S.7
  • 9
    • 12144288251 scopus 로고    scopus 로고
    • The U.S.-Venezuela Collaborative Research Project and Wexler, N.S. (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc. Natl Acad. Sci. USA 9, 3498-3503.
    • The U.S.-Venezuela Collaborative Research Project and Wexler, N.S. (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc. Natl Acad. Sci. USA 9, 3498-3503.
  • 13
    • 0031747231 scopus 로고    scopus 로고
    • Genetic polymorphisms adjacent to the CAG repaet influence clinical features at onset in Huntington's disease
    • Vuillaume, I., Vermersch, P., Destee, A., Petit, H. and Sablonniere, B. (1998) Genetic polymorphisms adjacent to the CAG repaet influence clinical features at onset in Huntington's disease. J. Neurol. Neurosurg. Psychiatry, 64, 758-162.
    • (1998) J. Neurol. Neurosurg. Psychiatry , vol.64 , pp. 758-162
    • Vuillaume, I.1    Vermersch, P.2    Destee, A.3    Petit, H.4    Sablonniere, B.5
  • 15
    • 0033033679 scopus 로고    scopus 로고
    • Age of onset in Huntington disease: Sex specific influence of apolipoprotein E genotype and normal CAG repeat length
    • Kehoe, P., Krawczak, M., Harper, P.S., Owen, M.J. and Jones, A.L. (1999) Age of onset in Huntington disease: Sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J. Med. Genet., 36, 108-111.
    • (1999) J. Med. Genet , vol.36 , pp. 108-111
    • Kehoe, P.1    Krawczak, M.2    Harper, P.S.3    Owen, M.J.4    Jones, A.L.5
  • 16
    • 33846436448 scopus 로고    scopus 로고
    • Andresen, J.M., Gayah, J., Cherny, S.S., Brocklebank, D., Alkorta-Aranburu, G., Addis, E.A., Cardon, L.R., Housman, D.E., Wexler, N.S. and and The US-Venezuela Collaborative Research Group (2007) Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J. Med. Genet. 44, 44-50.
    • Andresen, J.M., Gayah, J., Cherny, S.S., Brocklebank, D., Alkorta-Aranburu, G., Addis, E.A., Cardon, L.R., Housman, D.E., Wexler, N.S. and and The US-Venezuela Collaborative Research Group (2007) Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J. Med. Genet. 44, 44-50.
  • 18
    • 0030937818 scopus 로고    scopus 로고
    • Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
    • Rubinsztein, D.C., Leggo, J., Chiano, M., Dodge, A., Norbury, G, Rosser, E. and Craufurd, D. (1997) Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc. Natl Acad. Sci. USA, 94, 3872-3876.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 3872-3876
    • Rubinsztein, D.C.1    Leggo, J.2    Chiano, M.3    Dodge, A.4    Norbury, G.5    Rosser, E.6    Craufurd, D.7
  • 19
    • 15444363304 scopus 로고    scopus 로고
    • NR2A and NR2B receptor gene variations modify age at onset in Huntington disease
    • Arning, L., Kraus, P.H., Valentin, S., Saft, C., Andricj, J. and Epplen, J.T. (2005) NR2A and NR2B receptor gene variations modify age at onset in Huntington disease. Neurogenetics, 6, 25-28.
    • (2005) Neurogenetics , vol.6 , pp. 25-28
    • Arning, L.1    Kraus, P.H.2    Valentin, S.3    Saft, C.4    Andricj, J.5    Epplen, J.T.6
  • 21
    • 0037008355 scopus 로고    scopus 로고
    • Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease
    • Naze, P., Vuillaume, I., Destee, A., Pasquier, F. and Sablonniere, B. (2002) Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease. Neurosci. Lett., 328, 1-4.
    • (2002) Neurosci. Lett , vol.328 , pp. 1-4
    • Naze, P.1    Vuillaume, I.2    Destee, A.3    Pasquier, F.4    Sablonniere, B.5
  • 24
    • 0032190391 scopus 로고    scopus 로고
    • The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): Comparison with huntingtin in rat and human
    • Gutekunst, C.A., Li, S.H., Yi, H., Ferrante, R.J., Li, X.J. and Hersch, S.M. (1998) The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): Comparison with huntingtin in rat and human. J. Neurosci., 18, 7674-7686.
    • (1998) J. Neurosci , vol.18 , pp. 7674-7686
    • Gutekunst, C.A.1    Li, S.H.2    Yi, H.3    Ferrante, R.J.4    Li, X.J.5    Hersch, S.M.6
  • 26
    • 33645642673 scopus 로고    scopus 로고
    • Interaction of Huntingtin-associated protein-1 with kinesin light chain: Implications in intracellular trafficking in neurons
    • McGuire, J.R., Rong, J., Li, S.H. and Li, X.J. (2006) Interaction of Huntingtin-associated protein-1 with kinesin light chain: Implications in intracellular trafficking in neurons. J. Biol. Chem., 281 3552-3559.
    • (2006) J. Biol. Chem , vol.281 , pp. 3552-3559
    • McGuire, J.R.1    Rong, J.2    Li, S.H.3    Li, X.J.4
  • 27
    • 0041963057 scopus 로고    scopus 로고
    • Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate roceptor type 1
    • Tang, T.S., Tu, H., Chan, E.Y., Maximov, A., Wang, Z., Wellington, C.L., Hayden, M.R. and Rezprozvanny, I. (2003) Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate roceptor type 1. Neuron, 39, 227-239.
    • (2003) Neuron , vol.39 , pp. 227-239
    • Tang, T.S.1    Tu, H.2    Chan, E.Y.3    Maximov, A.4    Wang, Z.5    Wellington, C.L.6    Hayden, M.R.7    Rezprozvanny, I.8
  • 28
    • 33747884387 scopus 로고    scopus 로고
    • Huntingtin-associated protein 1 (HAP1) interacts with androgen receptor (AR) and suppresses SBMA-mutant-AR-induced apoptosis
    • Takeshita, Y., Fujinaga, R., Zhao, C., Yanai, A. and Shinoda, K. (2006) Huntingtin-associated protein 1 (HAP1) interacts with androgen receptor (AR) and suppresses SBMA-mutant-AR-induced apoptosis. Hum. Mol. Genet., 15, 2298-2312.
    • (2006) Hum. Mol. Genet , vol.15 , pp. 2298-2312
    • Takeshita, Y.1    Fujinaga, R.2    Zhao, C.3    Yanai, A.4    Shinoda, K.5
  • 32
    • 0030767266 scopus 로고    scopus 로고
    • Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain
    • Colomer, V., Engelender, S., Sharp, A.H., Duan, K., Cooper, J.K., Lanahan, A., Lyford, G., Worley, P. and Ross, C.A. (1997) Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain. Hum. Mol. Genet., 6, 1519-1525.
    • (1997) Hum. Mol. Genet , vol.6 , pp. 1519-1525
    • Colomer, V.1    Engelender, S.2    Sharp, A.H.3    Duan, K.4    Cooper, J.K.5    Lanahan, A.6    Lyford, G.7    Worley, P.8    Ross, C.A.9
  • 33
    • 0032519646 scopus 로고    scopus 로고
    • Interaction of huntingtin-associated protein with dynactin P150Glued
    • Li, S.-H., Gutekunst, C.A., Hersch, S.M. and Li, X.J. (1998) Interaction of huntingtin-associated protein with dynactin P150Glued. J. Neurosci., 18, 1261-1269.
    • (1998) J. Neurosci , vol.18 , pp. 1261-1269
    • Li, S.-H.1    Gutekunst, C.A.2    Hersch, S.M.3    Li, X.J.4
  • 35
    • 0034847765 scopus 로고    scopus 로고
    • Juvenile onset Huntington's disease - clinical and research perspectives
    • Nance, M.A. and Myers, R.H. (2001) Juvenile onset Huntington's disease - clinical and research perspectives. Ment. Retard. Dev. Disabil. Res. Rev., 7, 153-157.
    • (2001) Ment. Retard. Dev. Disabil. Res. Rev , vol.7 , pp. 153-157
    • Nance, M.A.1    Myers, R.H.2
  • 36
    • 11144237210 scopus 로고    scopus 로고
    • HAP1 and intracellular trafficking
    • Li, X-J. and Li, H. (2005) HAP1 and intracellular trafficking. Trends Pharmacol. Sci., 26, 1-3.
    • (2005) Trends Pharmacol. Sci , vol.26 , pp. 1-3
    • Li, X.-J.1    Li, H.2
  • 37
    • 0037008677 scopus 로고    scopus 로고
    • Huntingtin-associated protein 1 interacts with hepatocyte growth factor-regulated tyrosine kinase substrate and functions in endosomal trafficking
    • Li, Y., Chin, L.S., Levey, A.I. and Li, L. (2002) Huntingtin-associated protein 1 interacts with hepatocyte growth factor-regulated tyrosine kinase substrate and functions in endosomal trafficking. J. Biol. Chem., 277, 28212-28221.
    • (2002) J. Biol. Chem , vol.277 , pp. 28212-28221
    • Li, Y.1    Chin, L.S.2    Levey, A.I.3    Li, L.4
  • 38
    • 0041632303 scopus 로고    scopus 로고
    • Lack of huntingtin-associated protein-1 causes neuronal death resembling hypothalamic degeneration in Huntington's disease
    • Li, S.H., Yu, Z.X., Li, C.L., Nguyen, H.P., Zhou, Y.X., Deng, C. and Li, X.J. (2003) Lack of huntingtin-associated protein-1 causes neuronal death resembling hypothalamic degeneration in Huntington's disease. J. Neurosci., 23, 6956-6964.
    • (2003) J. Neurosci , vol.23 , pp. 6956-6964
    • Li, S.H.1    Yu, Z.X.2    Li, C.L.3    Nguyen, H.P.4    Zhou, Y.X.5    Deng, C.6    Li, X.J.7
  • 40
    • 12744279625 scopus 로고    scopus 로고
    • Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington's disease: Neuronal selectivity and potential neuroprotective role of HAP1
    • Zucker, B., Luthi-Carter, R., Kama, J.A., Dunah, A.W., Stem, E.A., Fox, J.H., Standaerd, D.G., Young, A.B. and Augood, S.J. (2005) Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington's disease: Neuronal selectivity and potential neuroprotective role of HAP1. Hum. Mol. Genet., 14 179-189.
    • (2005) Hum. Mol. Genet , vol.14 , pp. 179-189
    • Zucker, B.1    Luthi-Carter, R.2    Kama, J.A.3    Dunah, A.W.4    Stem, E.A.5    Fox, J.H.6    Standaerd, D.G.7    Young, A.B.8    Augood, S.J.9
  • 41
    • 0030752709 scopus 로고    scopus 로고
    • Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
    • DiFiglia, M., Sapp, E., Chase, K.O., Davies, S.W., Bates, G.P., Vonsattel, J.P. and Aronin, N. (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science, 277, 1990-1993.
    • (1997) Science , vol.277 , pp. 1990-1993
    • DiFiglia, M.1    Sapp, E.2    Chase, K.O.3    Davies, S.W.4    Bates, G.P.5    Vonsattel, J.P.6    Aronin, N.7
  • 42
    • 7244236320 scopus 로고    scopus 로고
    • Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
    • Arrasate, M., Mitra, S., Schweitzer, E.S., Segal, M.R. and Finkbeiner, S. (2004) Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature, 431, 805-810.
    • (2004) Nature , vol.431 , pp. 805-810
    • Arrasate, M.1    Mitra, S.2    Schweitzer, E.S.3    Segal, M.R.4    Finkbeiner, S.5
  • 44
    • 0037096376 scopus 로고    scopus 로고
    • Calpain activation in Huntington's disease
    • Gafni, J. and Ellerby, L.M. (2002) Calpain activation in Huntington's disease. J. Neurosci., 22, 4842-4849.
    • (2002) J. Neurosci , vol.22 , pp. 4842-4849
    • Gafni, J.1    Ellerby, L.M.2
  • 45
    • 33745003424 scopus 로고    scopus 로고
    • Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin
    • Graham, R.K., Deng, Y., Slow, E., Haigh, B., Bissada, N., Lu, G., Pearson, J., Shehadeh, J., Bertram, L. and Murphy, Z. (2006) Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin. Cell, 125, 1179-1191.
    • (2006) Cell , vol.125 , pp. 1179-1191
    • Graham, R.K.1    Deng, Y.2    Slow, E.3    Haigh, B.4    Bissada, N.5    Lu, G.6    Pearson, J.7    Shehadeh, J.8    Bertram, L.9    Murphy, Z.10
  • 47
    • 0033520166 scopus 로고    scopus 로고
    • Oxidative damage to mitochondrial DNA in Huntington's disease parietal cortex
    • Polidori, M.C., Mecocci, P., Browne, S.E., Senin, U. and Beal, M.F. (1999) Oxidative damage to mitochondrial DNA in Huntington's disease parietal cortex. Neurosci. Lett., 272, 53-56.
    • (1999) Neurosci. Lett , vol.272 , pp. 53-56
    • Polidori, M.C.1    Mecocci, P.2    Browne, S.E.3    Senin, U.4    Beal, M.F.5
  • 49
    • 34248166420 scopus 로고    scopus 로고
    • Multiple pathways contribute to the pathogenesis of Huntington disease
    • Li, S. and Li, X.J. (2006) Multiple pathways contribute to the pathogenesis of Huntington disease. Mol. Neurodegener., 1, 19.
    • (2006) Mol. Neurodegener , vol.1 , pp. 19
    • Li, S.1    Li, X.J.2
  • 51
    • 8844220536 scopus 로고    scopus 로고
    • Huntingtin and the molecular pathogenesis of Huntington's disease. Fourth in molecular medicine review series
    • Landles, C. and Bates, G.P. (2004) Huntingtin and the molecular pathogenesis of Huntington's disease. Fourth in molecular medicine review series. EMBO Rep., 5, 958-963.
    • (2004) EMBO Rep , vol.5 , pp. 958-963
    • Landles, C.1    Bates, G.P.2
  • 52
    • 35748955475 scopus 로고    scopus 로고
    • Interacting proteins as genetic modifiers of Huntington's disease
    • Li, X.-J., Friedman, M. and Li, S. (2007) Interacting proteins as genetic modifiers of Huntington's disease. Trends Genet., 23 531-533.
    • (2007) Trends Genet , vol.23 , pp. 531-533
    • Li, X.-J.1    Friedman, M.2    Li, S.3
  • 53
    • 25444453003 scopus 로고    scopus 로고
    • Association between BDNF Val66Met polymorphism and age at onset in Huntington disease
    • Alberch, J., Lopez, M., Badenas, C., Carrasco, J.L., Mila, M., Munoz, E. and Canals, J.M. (2005) Association between BDNF Val66Met polymorphism and age at onset in Huntington disease. Neurology, 65, 964-965.
    • (2005) Neurology , vol.65 , pp. 964-965
    • Alberch, J.1    Lopez, M.2    Badenas, C.3    Carrasco, J.L.4    Mila, M.5    Munoz, E.6    Canals, J.M.7
  • 54
    • 33745233087 scopus 로고    scopus 로고
    • Regulation of intracellular trafficking of hungtingtin-associated protein-1 is critical for TrkA protein levels and neurite outgrowth
    • Rong, J., McGuire, J.R., Fang, Z.H., Sheng, G., Shin, J.Y., Li, S.H. and Li, X.J. (2006) Regulation of intracellular trafficking of hungtingtin-associated protein-1 is critical for TrkA protein levels and neurite outgrowth. J. Neurosci., 26, 6019-6030.
    • (2006) J. Neurosci , vol.26 , pp. 6019-6030
    • Rong, J.1    McGuire, J.R.2    Fang, Z.H.3    Sheng, G.4    Shin, J.Y.5    Li, S.H.6    Li, X.J.7
  • 55
    • 4344624896 scopus 로고    scopus 로고
    • Huntingtin-associated protein 1 regulates inhibitory synaptic transmission by modulating gamma-aminobutyric acid type A receptor membrane trafficking
    • Kittler, J.T., Thomas, P., Tretter, V., Bogdanov, Y.D., Haucke, V., Smart, T.G. and Moss, S.J. (2004) Huntingtin-associated protein 1 regulates inhibitory synaptic transmission by modulating gamma-aminobutyric acid type A receptor membrane trafficking. Proc. Natl Acad. Sci. USA, 101, 12736-12741.
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 12736-12741
    • Kittler, J.T.1    Thomas, P.2    Tretter, V.3    Bogdanov, Y.D.4    Haucke, V.5    Smart, T.G.6    Moss, S.J.7
  • 56
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen, J.T. and Antonarakis, S.E. (2001) Nomenclature for the description of human sequence variations. Hum. Genet., 109, 121-124.
    • (2001) Hum. Genet , vol.109 , pp. 121-124
    • den Dunnen, J.T.1    Antonarakis, S.E.2


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