메뉴 건너뛰기




Volumn 5, Issue REVIEW, 1996, Pages 1431-1435

Huntington disease: New insights into the relationship between CAG expansion and disease

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTEINE PROTEINASE;

EID: 0029791355     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.supplement_1.1431     Document Type: Short Survey
Times cited : (54)

References (48)
  • 1
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 6
    • 0028904293 scopus 로고
    • Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein
    • Jou, Y.S. and Myers, R.M. (1995) Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein. Hum. Mol. Genet. 4, 465-469.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 465-469
    • Jou, Y.S.1    Myers, R.M.2
  • 7
    • 0029298231 scopus 로고
    • Gain of glutamines, gain of function?
    • Housman, D. (1995) Gain of glutamines, gain of function? Nature Genet. 10, 3-4.
    • (1995) Nature Genet. , vol.10 , pp. 3-4
    • Housman, D.1
  • 13
    • 0028972448 scopus 로고
    • Polyglutamine expansion as a common pathological epitope detected in Huntington's disease, in spinocerebellar ataxia 1 and 3 and two additional autosomal dominant cerebellar ataxias
    • Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Weber, C., Saudou, F., David, G., Tora, L., Agid, Y., Brice, A. and Mandel, J-L. (1995) Polyglutamine expansion as a common pathological epitope detected in Huntington's disease, in spinocerebellar ataxia 1 and 3 and two additional autosomal dominant cerebellar ataxias. Nature 378, 403-406.
    • (1995) Nature , vol.378 , pp. 403-406
    • Trottier, Y.1    Lutz, Y.2    Stevanin, G.3    Imbert, G.4    Devys, D.5    Cancel, G.6    Weber, C.7    Saudou, F.8    David, G.9    Tora, L.10    Agid, Y.11    Brice, A.12    Mandel, J.-L.13
  • 15
  • 17
    • 84993912315 scopus 로고
    • Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
    • Zeitlin, S., Liu, J-P., Chapman, D.L., Papaioannou, V.E. and Efstratiadis, A. (1995). Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nature Genet. 11, 155-162.
    • (1995) Nature Genet. , vol.11 , pp. 155-162
    • Zeitlin, S.1    Liu, J.-P.2    Chapman, D.L.3    Papaioannou, V.E.4    Efstratiadis, A.5
  • 23
    • 0029072690 scopus 로고
    • Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models
    • Protera-Cailliau, C., Hedreen, J.C., Price, D.L. and Koliatsos, V.E. (1995) Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models. J. Neurosci. 15, 3775-3787.
    • (1995) J. Neurosci. , vol.15 , pp. 3775-3787
    • Protera-Cailliau, C.1    Hedreen, J.C.2    Price, D.L.3    Koliatsos, V.E.4
  • 24
    • 0027525104 scopus 로고
    • The C. elegans cell death gene ced-3 encodes a protein similar to mammalian interleukin-1β-converting enzyme
    • Yuan, J-Y., Shaham, S., Ledoux, S., Ellis, H.J.M. and Horvitz, H.R. (1993) The C. elegans cell death gene ced-3 encodes a protein similar to mammalian interleukin-1β-converting enzyme. Cell 75, 641-652.
    • (1993) Cell , vol.75 , pp. 641-652
    • Yuan, J.-Y.1    Shaham, S.2    Ledoux, S.3    Ellis, H.J.M.4    Horvitz, H.R.5
  • 26
    • 0028990125 scopus 로고
    • Yama/CPP32β, a mammalian homolog of CED-3, is a CrmA-inhibitable protease that cleaves the death substrate poly(ADP-ribose) polymerase
    • Tewari, M., Quan, L.T., O'Rourke, K., Desnoyers, S., Zeng, Z., Beidler, D.R., Poirier, G.G., Salvesen, G.S. and Dixit, V.M. (1995) Yama/CPP32β, a mammalian homolog of CED-3, is a CrmA-inhibitable protease that cleaves the death substrate poly(ADP-ribose) polymerase. Cell 81, 801-809.
    • (1995) Cell , vol.81 , pp. 801-809
    • Tewari, M.1    Quan, L.T.2    O'Rourke, K.3    Desnoyers, S.4    Zeng, Z.5    Beidler, D.R.6    Poirier, G.G.7    Salvesen, G.S.8    Dixit, V.M.9
  • 27
    • 23444458415 scopus 로고
    • Transcriptional activation modulated by homopolymeric glutamine and proline stretches
    • Gerber, H.P., Seipel, K., Georgiev, O., Hofferer, M., Hug, M., Rusconi, S. and Schaffner, W. (1994) Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science 263, 808-811.
    • (1994) Science , vol.263 , pp. 808-811
    • Gerber, H.P.1    Seipel, K.2    Georgiev, O.3    Hofferer, M.4    Hug, M.5    Rusconi, S.6    Schaffner, W.7
  • 28
    • 0029871920 scopus 로고    scopus 로고
    • Cleavage of sterol regulatory element binding proteins (SREBPs) by CPP32 during apoptosis
    • Wang, X., Zelenski, N.G., Yang, J., Sakai, J., Brown, M.S. and Goldstein, J.L. (1996) Cleavage of sterol regulatory element binding proteins (SREBPs) by CPP32 during apoptosis. EMBO J. 15, 1012-1020.
    • (1996) EMBO J. , vol.15 , pp. 1012-1020
    • Wang, X.1    Zelenski, N.G.2    Yang, J.3    Sakai, J.4    Brown, M.S.5    Goldstein, J.L.6
  • 29
    • 0029899868 scopus 로고    scopus 로고
    • Huntingtin-associated protein (HAP1): Discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase
    • Li, X-J., Sharp, A.H., Li, S-H., Dawson, T.M., Snyder, S.H. and Ross, C.A. (1996) Huntingtin-associated protein (HAP1): Discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase. Proc. Natl Acad. Sci. USA 93, 4839-4844.
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 4839-4844
    • Li, X.-J.1    Sharp, A.H.2    Li, S.-H.3    Dawson, T.M.4    Snyder, S.H.5    Ross, C.A.6
  • 30
    • 0023250460 scopus 로고    scopus 로고
    • The combined use of positron emission tomography and DNA polymorphisms for preclinical detection of Huntington disease
    • Hayden, M.R., Hewitt, J., Stoessl, J., Clark, C., Moennich, D. and Martin, W. The combined use of positron emission tomography and DNA polymorphisms for preclinical detection of Huntington disease. Neurology 37, 1441-1447.
    • Neurology , vol.37 , pp. 1441-1447
    • Hayden, M.R.1    Hewitt, J.2    Stoessl, J.3    Clark, C.4    Moennich, D.5    Martin, W.6
  • 32
    • 0027314334 scopus 로고
    • Rat brain glyceraldehyde-3-phosphate dehydrogenase interacts with the recombinant cytoplasmic domain of Alzheimer's β-amyloid precursor protein
    • Schulze, H., Schuler, A., Stüber, Döbeli, H., Langen, H. and Huber, G. (1993) Rat brain glyceraldehyde-3-phosphate dehydrogenase interacts with the recombinant cytoplasmic domain of Alzheimer's β-amyloid precursor protein. J. Neurochem. 60, 1915-1992.
    • (1993) J. Neurochem. , vol.60 , pp. 1915-1992
    • Schulze, H.1    Schuler, A.2    Stüber3    Döbeli, H.4    Langen, H.5    Huber, G.6
  • 33
    • 0030045251 scopus 로고    scopus 로고
    • Evidence that glyceraldehyde-3-phosphate dehydrogenase is involved in age-induced apoptosis in mature cerebellar neurons in culture
    • Ishitani, R., Sunaga, K., Hirano, A., Saunders, P., Katsube, N. and Chuang, D-M. (1996) Evidence that glyceraldehyde-3-phosphate dehydrogenase is involved in age-induced apoptosis in mature cerebellar neurons in culture. J. Neurochem. 66, 928-935.
    • (1996) J. Neurochem. , vol.66 , pp. 928-935
    • Ishitani, R.1    Sunaga, K.2    Hirano, A.3    Saunders, P.4    Katsube, N.5    Chuang, D.-M.6
  • 34
    • 0026076015 scopus 로고
    • Isolation of a cDNA encoding a mammalian multiubiquitinating enzyme (E225K) and overexpression of the functional enzyme in Escherichia coli
    • Chen, Z., Niles, E.G. and Pickart, C.M. (1991) Isolation of a cDNA encoding a mammalian multiubiquitinating enzyme (E225K) and overexpression of the functional enzyme in Escherichia coli. J. Biol. Chem. 266, 15698-15704.
    • (1991) J. Biol. Chem. , vol.266 , pp. 15698-15704
    • Chen, Z.1    Niles, E.G.2    Pickart, C.M.3
  • 35
    • 0028841492 scopus 로고
    • Make it or break it: The role of ubiquitin-dependent proteolysis in cellular regulation
    • Deshaies, R.J. (1995) Make it or break it: the role of ubiquitin-dependent proteolysis in cellular regulation. Trends Cell Biol. 5, 428-434.
    • (1995) Trends Cell Biol. , vol.5 , pp. 428-434
    • Deshaies, R.J.1
  • 36
    • 0027301377 scopus 로고
    • Ubiquitin-reactive neurites in cerebral cortex of subjects with Huntington's chorea: A pathological correlate of dementia?
    • Cammarata, S., Caponnetto, C. and Tabaton, M. (1993) Ubiquitin-reactive neurites in cerebral cortex of subjects with Huntington's chorea: a pathological correlate of dementia? Neurosci. Lett. 156, 96-98.
    • (1993) Neurosci. Lett. , vol.156 , pp. 96-98
    • Cammarata, S.1    Caponnetto, C.2    Tabaton, M.3
  • 39
    • 0028149710 scopus 로고
    • Ubiquitinated dystrophic neurites suggest corticospinal derangement in patients with amyotrophic lateral sclerosis
    • Schiffer, D., Attanasino, A., Chio, A., Migheli, A. and Pezzulo, T. (1994) Ubiquitinated dystrophic neurites suggest corticospinal derangement in patients with amyotrophic lateral sclerosis. Neurosci. Lett. 180, 21-24 .
    • (1994) Neurosci. Lett. , vol.180 , pp. 21-24
    • Schiffer, D.1    Attanasino, A.2    Chio, A.3    Migheli, A.4    Pezzulo, T.5
  • 41
    • 0028868853 scopus 로고
    • In a rat model of parkinsonism, lesions of the subthalamic nucleus reverse increases of reaction time but induces a dramatic premature responding deficit
    • Baunez, C., Nieoullon, A. and Amalric, M. (1995) In a rat model of parkinsonism, lesions of the subthalamic nucleus reverse increases of reaction time but induces a dramatic premature responding deficit. J. Neurosci. 15, 6531-6541.
    • (1995) J. Neurosci. , vol.15 , pp. 6531-6541
    • Baunez, C.1    Nieoullon, A.2    Amalric, M.3
  • 42
    • 0028817060 scopus 로고
    • Functional anatomy of the basal ganglia II. The place of subthalamic nucleus and external pallidum in basal ganglia circuitry
    • Parent, A. and Hazrati, L-N. (1995) Functional anatomy of the basal ganglia II. The place of subthalamic nucleus and external pallidum in basal ganglia circuitry. Brain Res. Rev. 20, 128-154.
    • (1995) Brain Res. Rev. , vol.20 , pp. 128-154
    • Parent, A.1    Hazrati, L.-N.2
  • 43
    • 0025309530 scopus 로고
    • The cytomegalovirus enhancer: A pan-active control element in transgenic mice
    • Schmidt, E.V., Christoph, G., Zeller, R. and Leder, P. (1990) The cytomegalovirus enhancer: a pan-active control element in transgenic mice. Mol. Cell. Biol. 10, 4406-4411.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 4406-4411
    • Schmidt, E.V.1    Christoph, G.2    Zeller, R.3    Leder, P.4
  • 44
    • 0025003568 scopus 로고
    • The 5'-flanking region of the synapsin I gene: A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function
    • Sauerwald, A., Hoesche, C., Oschwald, R. and Kilimann, M.W. (1990) The 5'-flanking region of the synapsin I gene: A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function. J. Biol. Chem. 265, 14932-14937.
    • (1990) J. Biol. Chem. , vol.265 , pp. 14932-14937
    • Sauerwald, A.1    Hoesche, C.2    Oschwald, R.3    Kilimann, M.W.4
  • 45
    • 0027724697 scopus 로고
    • Transcriptional activity of the neuron-specific enolase (NSE) promoter in murine embryonic stem (ES) cells and preimplantation embryos
    • Alouani, S., Ketchum, S., Rambosson, C. and Eistetter, H.R. (1993) Transcriptional activity of the neuron-specific enolase (NSE) promoter in murine embryonic stem (ES) cells and preimplantation embryos. Eur. J. Cell Biol. 62, 324-332.
    • (1993) Eur. J. Cell Biol. , vol.62 , pp. 324-332
    • Alouani, S.1    Ketchum, S.2    Rambosson, C.3    Eistetter, H.R.4
  • 46
    • 0028179419 scopus 로고
    • 5′-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice
    • Rinco'n-Limas, D.E., Geske, R.S., Xue, J-J., Hus, C.Y., Overbeek, P.A. and Patel, P.I. (1994) 5′-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice. J. Neurosci. Res. 38, 259-267.
    • (1994) J. Neurosci. Res. , vol.38 , pp. 259-267
    • Rinco'n-Limas, D.E.1    Geske, R.S.2    Xue, J.-J.3    Hus, C.Y.4    Overbeek, P.A.5    Patel, P.I.6
  • 47
    • 0028150583 scopus 로고
    • Insertion of a pathogenic mutation into a yeast artificial chromosome containing the human amyloid precursor protein gene
    • Duff, K., McGuigan, A., Huxley, C., Schulz, F. and Hardy, J. (1994) Insertion of a pathogenic mutation into a yeast artificial chromosome containing the human amyloid precursor protein gene. Gene Ther. 1, 70-75.
    • (1994) Gene Ther. , vol.1 , pp. 70-75
    • Duff, K.1    McGuigan, A.2    Huxley, C.3    Schulz, F.4    Hardy, J.5
  • 48
    • 0026764280 scopus 로고
    • Tissue- and site-specific DNA recombination in transgenic mice
    • Orban, P.C., Chui, D. and Marth, J.D. (1992) Tissue- and site-specific DNA recombination in transgenic mice. Proc. Natl Acad. Sci. USA 89, 6861-6865.
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 6861-6865
    • Orban, P.C.1    Chui, D.2    Marth, J.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.