Trafficking Defects in Huntington's Disease

Protein Trafficking in Neurons

Volumn , Issue , 2007, Pages 369-389

  Trushina, E ^a   McMurray, C T ^a  

^a MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882830195     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012369437-9/50024-4     Document Type: Chapter

References (139)

1. Andrade M.A., Bor P. HEAT repeats in the Huntington's disease protein. Nat. Genet. 1995, 11:115-116.
2. Bates G.P. History of genetic disease: The molecular genetics of Huntington disease-A history. Nat. Rev. Genet. 2005, 6:766-773.
3. Beal M.F. Mitochondria take center stage in aging and neurodegeneration. Ann. Neurol. 2005, 58:495-505.
4. Block-Galarza J., Chase K.O., Sapp E., Vaughn K.T., Vallee R.B., DiFiglia M., Aronin N. Fast transport and retrograde movement of huntingtin and HAP 1 in axons. Neuroreport 1997, 8:2247-2251.
5. Bonifacino J.S., Glick B.S. The mechanisms of vesicle budding and fusion. Cell 2004, 116:153-166.
6. Bradke F., Dotti C.G. Membrane traffic in polarized neurons. Biochim. Biophys. Acta 1998, 1404:245-258.
7. Brandt R., Leschik J. Functional interactions of tau and their relevance for Alzheimer's disease. Curr. Alzheimer Res. 2004, 1:255-269.
8. Breuer A.C., Lynn M.P., Atkinson M.B., Chou S.M., Wilbourn A.J., Marks K.E., et al. Fast axonal transport in amyotrophic lateral sclerosis: An intra-axonal organelle traffic analysis. Neurology 1997, 37:738-748.
9. Browne S.E., Beal M.F. The energetics of Huntington's disease. Neurochem. Res. 2004, 29:531-546.
10. Cairns N.J., Lee V.M., Trojanowski J.Q. The cytoskeleton in neurodegenerative diseases. J. Pathol. 2004, 204:438-449.
11. Chang T.Y., Reid P.C., Sugii S., Ohgami N., Cruz J.C., Chang C.C. Niemann-Pick type C disease and intracellular cholesterol trafficking. J. Biol. Chem. 2005, 280:20917-20920.
12. Charrin B.C., Saudou F., Humbert S. Axonal transport failure in neurodegenerative disorders: The case of Huntington's disease. Pathol. Biol. 2005, 53:189-192.
13. Chen C.Y., Brodsky F.M. Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo. J. Biol. Chem. 2005, 280:6109-6117.
14. Chernomordik L.V., Kozlov M.M. Membrane hemifusion: Crossing a chasm in two leaps. Cell 2005, 123:375-382.
15. Choudhury A., Dominguez M., Puri V., Sharma D.K., Narita K., Wheatley C.L., et al. Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J. Clin. Invest. 2002, 109:1541-1550.
16. Choudhury A., Sharma D.K., Marks D.L., Pagano R.E. Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling. Mol. Biol. Cell 2004, 15:4500-4511.
17. Collard J.F., Cote F., Julien J.P. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature 1995, 375:61-64.
18. DiFiglia M., Sapp E., Chase K., Schwarz C., Meloni A., Young C., et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995, 14:1075-1081.
19. DiFiglia M., Sapp E., Chase K.O., Davies S.W., Bates G.P., Vonsattel J.P., Aronin N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997, 277:1990-1993.
20. Drubin D.G., Kirschner M.W. Tau protein function in living cells. J. Cell Biol. 1986, 103:2739-2746.
21. Ducker C.E., Stettler E.M., French K.J., Upson J.J., Smith C.D. Huntingtin interacting protein 14 is an oncogenic human protein: Palmitoyl acyltransferase. Oncogene 2004, 23:9230-9237.
22. Dunah A.W., Jeong H., Griffin A., Kim Y.M., Standaert D.G., Hersch S.M., et al. Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 2002, 296:2238-2243.
23. Dyer R.B., McMurray C.T. Mutant protein in Huntington disease is resistant to proteolysis in affected brain. Nat. Genet. 2001, 29:270-278.
24. Engelender S., Sharp A.H., Colomer V., Tokito M.K., Lanahan A., Worley P., et al. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. Hum. Mol. Genet. 1997, 13:2205-2212.
25. Engqvist-Goldstein A.E., Kessels M.M., Chopra V.S., Hayden M.R., Drubin D.G. An actinbinding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles. J. Cell. Biol. 1999, 147:1503-1518.
26. Foster L.J., Weir M.L., Lim D.Y., Liu Z., Trimble W.S., Klip A. A functional role for VAP-33 in insulin-stimulated GLUT4 traffic. Traffic 2000, 1:512-521.
27. Gage F.H., McAllister A.K. Neuronal and glial cell biology. Curr. Opin. Neurobiol. 2005, 15:497-499.
28. Gauthier L.R., Charrin B.C., Borrell-Pages M., Dompierre J.P., Rangone H., Cordelieres F.P., et al. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004, 118:127-138.
29. Gines S., Seong I.S., Fossale E., Ivanova E., Trettel F., Gusella J.F., et al. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum. Mol. Genet. 2003, 12:497-508.
30. Gros-Louis F., Meijar I.A., Hand C.K., Dube M.-P., MacGregor D.L., Seni M.-H., et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann. Neurol. 2003, 53:144-145.
31. Groves M.R., Hanlon N., Turowski P., Hemmings B.A., Barford D. The structure of the protein phosphatase 2A PR65/A subunit reveals the conformation of its 15 tandemly repeated HEAT motifs. Cell 1999, 96:99-110.
32. Gunawardena S., Goldstein L.S. Disruption of axonal transport and neuronal viability by amyloid precursor protein mutations in Drosophila. Neuron 2001, 32:389-401.
33. Gunawardena S., Goldstein L.S. Polyglutamine diseases and transport problems: Deadly traffic jams on neuronal highways. Arch. Neurol. 2005, 62:46-51.
34. Gunawardena S., Her L.S., Brusch R.G., Laymon R.A., Niesman I.R., Gordesky-Gold B., et al. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron 2003, 40:25-40.
35. Hackam A.S., Singaraja R., Zhang T., Gan L., Hayden M.R. In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease. Hum. Mol. Genet. 1999, 8:25-33.
36. Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat. Genet. 2001, 29:166-173.
37. Hafezparast M., Klocke R., Ruhrberg C., Marquardt A., Ahmad-Annuar A., Bowen S., et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 2003, 300:808-812.
38. Hague S.M., Klaffke S., Bandmann O. Neurodegenerative disorders: Parkinson's disease and Huntington's disease. J. Neurol. Neurosurg. Psychiatry 2005, 76:1058-1063.
39. Harjes P., Wanker E.E. The hunt for huntingtin function: Interaction partners tell many different stories. Trends Biochem. Sci. 2003, 28:425-433.
40. Hattula K., Peranen J. FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis. Curr. Biol. 2000, 10:1603-1606.
41. Hirokawa N., Takemura R. Biochemical and molecular characterization of diseases linked to motor proteins. Trends Biochem. Sci. 2003, 28:558-565.
42. Hockly E., Richon V.M., Woodman B., et al. Suberoylanilide hydroxamic acid, a histone deacety-lase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc. Natl. Acad. Sci. USA 2003, 100:2041-2046.
43. Hodgson J.G., Agopyan N., Gutekunst C.A., Leavitt B.R., LePiane F., Singaraja R., et al. A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 1999, 23:181-192.
44. Hommelgaard A.M., Roepstorff K., Vilhardt F., Torgersen M.L., Sandvig K., van Deurs B. Caveolae: Stable membrane domains with a potential for internalization. Traffic 2005, 6:720-724.
45. Hoshino M., Tagawa K., Okuda T., Murata M., Oyanagi K., Arai N., et al. Histone deacetylase activity is retained in primary neurons expressing mutant huntingtin protein. J. Neurochem. 2003, 87:257-267.
46. Huang K., Yanai A., Kang R., Arstikaitis P., Singaraja R.R., Metzler M., et al. Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins. Neuron 2004, 44:977-986.
47. Hughes R.E., Lo R.S., Davis C., et al. Altered transcription in yeast expressing expanded polyglutamine. Proc. Natl. Acad. Sci. USA 2001, 98:13201-13206.
48. Kalchman M.A., Koide H.B., McCutcheon K., Graham R.K., Nichol K., Nishiyama K., et al. HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nat. Genet. 1997, 16:44-53.
49. Kegel K.B., Kim M., Sapp E., McIntyre C., Castano J.G., Aronin N., DiFiglia M. Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy. J. Neurosci. 2000, 20:7268-7278.
50. Kegel K.B., Meloni A.R., Yi Y., Kim Y.J., Doyle E., Cuiffo B.G., et al. Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription. J. Biol. Chem. 2002, 277:7466.
51. Kegel K.B., Sapp E., Yoder J., Cuiffo B., Sobin L., Kim Y.J., et al. Huntingtin associates with acidic phospholipids at the plasma membrane. J. Biol. Chem. 2005, 280:36464-36473.
52. Kim M., Velier J., Chase K., Laforet G., Kalchman M.A., et al. Forskolin and dopamine D1 receptor activation increase huntingtin's association with endosomes in immortalized neuronal cells of striatal origin. Neurosci. 1999, 89:1159-1167.
53. Kim T., Tanzi R. Neuronal intranuclear inclusions in polyglutamine diseases, nuclear weapons or nuclear fallout?. Neuron 1998, 21:657-659.
54. Kittler J.T., Thomas P., Tretter V., Bogdanov Y.D., Haucke V., Smart T.G., Moss S.J. Huntingtin-associated protein 1 regulates inhibitory synaptic transmission by modulating gamma-aminobutyric acid type A receptor membrane trafficking. Proc. Natl. Acad. Sci. USA 2004, 101:12736-12741.
55. Kovtun I., McMurray C.T. Mechanisms of DNA repair underlying DNA expansion. The genetic basis for neurological disease 2005, (in press). R. Wells (Ed.).
56. Krainc D., Bai G., Okamoto S., Carles M., Kusiak J.W., Brent R.N., Lipton S.A. Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1. J. Biol. Chem. 1998, 273:26218-26224.
57. Kuret J., Chirita C., Congdon E., Kannanayakal T., Li G., Necula M., et al. Pathways of tau fibrillization. Biochimica et Biophysica Acta 2005, 1739:167-178.
58. Kurzchalia T.V., Parton R.G. Membrane microdomains and caveolae. Curr. Opin. Cell Biol. 1999, 11:424-431.
59. LaMonte B.H., Wallace K.E., Holloway B.A., Shelly S.S., Ascano J., Tokito M., et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 2002, 34:715-727.
60. Lebrand C., Corti M., Goodson H., Cosson P., Cavalli V., Mayran N., et al. Late endosome motility depends on lipids via the small GTPase Rab7. EMBO J. 2002, 21:1289-1300.
61. Lee W.M., Yoshihara M., Littleton J.T. Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease. PNAS 2004, 101:3224-3229.
62. Legendre-Guillemin V., Metzler M., Lemaire J.F., Philie J., Gan L., Hayden M.R., McPherson P.S. Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain. J. Biol. Chem. 2005, 280:6101-6108.
63. Li S.H., Gutekunst C.A., Hersch S.M., Li X.J. Interaction of huntingtin-associated protein with dynactin P150Glued. J. Neurosci. 1998, 18:1261-1269.
64. Li S.H., Hosseini S.H., Gutekunst C.A., Hersch S.M., Ferrante R.J., Li X.J. A human HAP1 homologue. Cloning, expression, and interaction with huntingtin. J. Biol. Chem. 1998, 273:19220-19227.
65. Li S-H., Cheng A.L., Zhou H., Lam S., Rao M., Li H., Li X-J. Interaction of Huntington disease protein with transcriptional activator Sp1. Mol. Cell Biol. 2002, 22:1277-1287.
66. Li X.J., Li S.H. HAP1 and intracellular trafficking. Trends Pharmacol. Sci. 2005, 26:1-3.
67. Li X.A., Everson W.V., Smart E.J. Caveolae, lipid rafts, and vascular disease. Trends Cardiovasc. Med. 2005, 15:92-96.
68. Lievens J.C., Rival T., Iche M., Cheniweiss H., Birman S. Expanded polyglutamine peptides disrupt EGF receptor signaling and glutamate transporter expression in Drosophila. Hum. Mol. Genet. 2005, 14:713-724.
69. Lin C.H., Tallaksen-Greene S., Chien W.M., Cearley J.A., Jackson W.S., Crouse A.B., et al. Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet. 2001, 10:137-144.
70. Martin S., Parton R.G. Caveolin, cholesterol, and lipid bodies. Semin. Cell Dev. Biol. 2005, 16:163-174.
71. Massimino M.L., Griffoni C., Spisni E., Toni M., Tomasi V. Involvement of caveolae and caveolae-like domains in signalling, cell survival and angiogenesis. Cell. Signal. 2002, 14:93-98.
72. Mattson M.P. Accomplices to neuronal death. Nature 2002, 415:377-379.
73. Maxfield F.R., McGraw T.E. Endocytic recycling. Nat. Rev. Mol. Cell Biol. 2004, 5:121-132.
74. McCampbell A., Taye A.A., Whitty L., et al. Histone deacetylase inhibitors reduce polyglutamine toxicity. Proc. Natl. Acad. Sci. USA 2001, 98:15179-15184.
75. McMurray C.T. To die or not to die: DNA repair in neurons. Mutat. Res. 2005, 577:260-274.
76. Metzler M., Li B., Gan L., Georgiou J., Gutekunst C.A., Wang Y., et al. Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking. EMBO J. 2003, 22:3254-3266.
77. Nangaku M., Sato-Yoshitake R., Okada Y., Noda Y., Takemura R., Yamazaki H., Hirokawa N. KIF1B, a novel microtubule plus end-directed monomeric motor protein for transport of mitochondria. Cell 1994, 79:1209-1220.
78. Nasir J., Floresco S.B., O'Kusky J.R., Diewert V.M., Richman J.M., Zeisler J., et al. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 1995, 81:811-823.
79. Nishimura A.L., Mitne-Neto M., Silva H.C., Richieri-Costa A., Middleton S., Cascio D., et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 2004, 75:822-831.
80. Nucifora F.C., Sasaki M., Peters M.F., Huang H., Cooper J.K., Yamada M., et al. Interference by huntingtin and atrophin-1 with CBP-mediated transcription leading to cellular toxicity. Science 2001, 291:2423-2428.
81. Panov A.V., Gutekunst C.A., Leavitt B.R., Hayden M.R., Burke J.R., Strittmatter W.J., Greenamyre J.T. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat. Neurosci. 2002, 5:731-736.
82. Panov A.V., Lund S., Greenamyre J.T. Ca2+-induced permeability transition in human lymphoblastoid cell mitochondria from normal and Huntington's disease individuals. Mol. Cell. Biochem. 2005, 269:143-152.
83. Paschen W., Mengesdorf T. Endoplasmic reticulum stress response and neurodegeneration. Cell Calcium 2005, 38:409-415.
84. Peters P.J., Ning K., Palacios F., Boshans R.L., Kazantsev A., Thompson L.M., et al. Arfaptin 2 regulates the aggregation of mutant huntingtin protein. Nat. Cell Biol. 2002, 4:240-245.
85. Perutz M.F., Johnson T., Suzuki M., Finch J.T. Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases. Proc. Natl. Acad. Sci. USA 1994, 91:5355-5358.
86. Perutz M.F. Glutamine repeats as polar zippers: their role in inherited neurodegenerative disease. Mol. Med. 1995, 1:718-721.
87. Petersen A., Larsen K.E., Behr G.G., Romero N., Przedborski S., Brundin P., Sulzer D. Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration. Hum. Mol. Genet. 2001, 10:1243-1254.
88. Pineda J.R., Canals J.M., Bosch M., Adell A., Mengod G., Artigas F., Ernfors P., Alberch J. Brain-derived neurotrophic factor modulates dopaminergic deficits in a transgenic mouse model of Huntington's disease. J. Neurochem. 2005, 93:1057-1068.
89. Puls I., Jonnakuty C., LaMonte B.H., Holzbaur E.L., Tokito M., Mann E., et al. Mutant dynactin in motor neuron disease. Nat. Genet. 2003, 33:455-456.
90. Qin Z.H., Wang Y., Sapp E., Cuiffo B., Wanker E., Hayden M.R., et al. Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction. J. Neurosci. 2004, 24:269-281.
91. Ravikumar B., Acevedo-Arozena A., Imarisio S., Berger Z., Vacher C., O'Kane C.J., et al. Dynein mutations impair autophagic clearance of aggregate-prone proteins. Nat. Genet. 2005, 37:771-776.
92. Reid E., Kloos M., Ashley-Koch A., Hughes L., Bevan S., Svenson I.K., et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 2002, 71:1189-1194.
93. Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
94. Sanai N., Alvarez-Buylla A., Berger M.S. Neural stem cells and the origin of gliomas. N. Engl. J. Med. 2005, 353:811-822.
95. Sanchez I., Mahlke C., Yuan J. Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature 2003, 421:373-379.
96. Sapp E., Penney J., Young A., Aronin N., Vonsattel J.P., DiFiglia M. Axonal transport of N-terminal huntingtin suggests early pathology of corticostriatal projections in Huntington disease. J. Neuropathol. Exp. Neurol. 1999, 58:165-173.
97. Saudou F., Finkbeiner S., Devys D., Greenberg M.E. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998, 95:55-66.
98. Seki N., Muramatsu M., Sugano S., Suzuki Y., Nakagawara A., Ohhira M., et al. Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1). J. Hum. Genet. 1998, 43:268-271.
99. Senetar M.A., Foster S.J., McCann R.O. Intrasteric inhibition mediates the interaction of the I/LWEQ module proteins Talin1, Talin2, Hip1, and Hip12 with actin. Biochemistry 2004, 43:15418-15428.
100. Sharp A.H., Love S.J., Schilling G., Li S.H., Li X.J., Bao J., et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 1995, 14:1065-1074.
101. Shaw P.J. Genetic inroads in familial ALS. Nat. Genet. 2001, 29:103-104.
102. Singaraja R.R., Hadano S., Metzler M., Givan S., Wellington C.L., Warby S., et al. HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. Hum. Mol. Genet. 2002, 11:2815-2828.
103. Skehel P.A., Fabian-Fine R., Kandel E.R. Mouse VAP33 is associated with the endoplasmic reticulum and microtubules. Proc. Natl. Acad. Sci. USA 2000, 97:1101-1106.
104. Slow E.J. Inclusions to the rescue? Neuroprotective role for huntingtin inclusions in HD. Clin. Genet. 2005, 67:228-229.
105. Smart E.J., Graf G.A., McNiven M.A., Sessa W.C., Engelman J.A., Scherer P.E., et al. Caveolins, liquid-ordered domains, and signal transduction. Mol. Cell Biol. 1999, 19:7289-7304.
106. Soussan L., Burakov D., Daniels M.P., Toister-Achituv M., Porat A., Yarden Y., Elazar Z. ERG30, a VAP-33-related protein, functions in protein transport mediated by COPI vesicles. J. Cell Biol. 1999, 146:301-311.
107. Stan R.V. Structure of caveolae. Biochim. Biophys. Acta 2005, Oct 5 (online).
108. Steffan J.S., Kazantsev A., Spasic-Boskovic O., Greenwald M., Zhu Y.Z., Gohler H., et al. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc. Natl. Acad. Sci. USA 2000, 97:6763-6768.
109. Steffan J.S., Bodai L., Pallos J., Poelman M., McCampbell A., Apostol B.L., et al. Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 2001, 413:7.
110. Steffan J.S., Agrawal N., Pallos J., Rockabrand E., Trotman L.C., Slepko N., et al. SUMO modification of Huntingtin and Huntington's disease pathology. Science 2004, 304:100-104.
111. Stokin G.B., Lillo C., Falzone T.L., Brusch R.G., Rockenstein E., Mount S.L., et al. Axonopathy and transport deficits early in the pathogenesis of Alzheimer's disease. Science 2005, 307:1282-1288.
112. Stowers R.S., Megeath L.J., Gorska-Andrzejak J., Meinertzhagen I.A., Schwarz T.L. Axonal transport of mitochondria to synapses depends on milton, a novel Drosophila protein. Neuron 2002, 36:1063-1077.
113. Sturley S.L., Patterson M.C., Balch W., Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim. Biophys. Acta 2004, 1685:83-87.
114. Sugars K.L., Brown R., Cook L.J., Swartz J., Rubinsztein D.C. Decreased cAMP response element-mediated transcription: An early event in exon 1 and full-length cell models of Huntington's disease that contributes to polyglutamine pathogenesis. J. Biol. Chem. 2004, 279:4988-4999.
115. Szebenyi G., Morfini G.A., Babcock A., Gould M., Selkoe K., Stenoien D.L., et al. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron 2003, 40:41-52.
116. Topp J.D., Gray N.W., Gerard R.D., Horazdovsky B.F. Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J. Biol. Chem. 2004, 279:24612-24623.
117. Torroja L., Chu H., Kotovsky I., White K. Neuronal overexpression of APPL, the Drosophila homologue of the amyloid precursor protein (APP), disrupts axonal transport. Curr. Biol. 1999, 9:489-492.
118. Trushina E., Heldebrant M.P., Perez-Terzic C.M., Bortolon R., Kovtun I.V., Badger J.D., et al. Microtubule destabilization and nuclear entry are sequential steps leading to toxicity in Huntington's disease. Proc. Natl. Acad. Sci. USA 2003, 100:12171-12216.
119. Trushina E., Dyer R.B., Badger J.D., Ure D., Eide L., Tran D.D., et al. Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro. Mol. Cell Biol. 2004, 24:8195-8209.
120. Tukamoto T., Nukina N., Ide K., Kanazawa I. Huntington's disease gene product, huntingtin, associates with microtubules in vitro. Mol. Brain Res. 1997, 51:8-14.
121. Valenza M., Rigamonti D., Goffredo D., Zuccato C., Fenu S., Jamot L., et al. Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease. J. Neurosci. 2005, 25:9932-9939.
122. Vecchi M., Di Fiore P.P. It's HIP to be a hub: New trends for old-fashioned proteins. J. Cell Biol. 2005, 170:169-171.
123. Velier J., Kim M., Schwarz C., Wan Kim T., Sapp E., et al. Wild-type and mutant huntingtin function in vesicle trafficking in the secretory and endocytic pathways. Exper. Biol. 1998, 152:34-40.
124. Waelter S., Scherzinger E., Hasenbank R., Nordhoff E., Lurz R., Goehler H., et al. The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis. Hum. Mol. Genet. 2001, 10:1807-1817.
125. Walter M., Davies J.P., Ioannou Y.A. Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes. J. Lipid Res. 2003, 44:243-253.
126. Wanker E.E., Rovira C., Scherzinger E., Hasenbank R., Walter S., Tait D., et al. HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system. Hum. Mol. Genet. 2005, 6:487-495.
127. Webb J.L., Ravikumar B., Rubinsztein D.C. Microtubule disruption inhibits autophagosomelysosome fusion: Implications for studying the roles of aggresomes in polyglutamine diseases. Int. J. Biochem. Cell Biol. 2004, 36:2541-2550.
128. Wesp A., Hicke L., Palecek J., Lombardi R., Aust T., Munn A.L., Riezman H. End4p/Sla2p interacts with actin-associated proteins for endocytosis in Saccharomyces cerevisiae. Mol. Biol. Cell 1997, 8:2291-2306.
129. White J.K., Auerbach W., Duyao M.P., Vonsattel J.P., Gusella J.F., Joyner A.L., MacDonald M.E. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat. Genet. 1997, 17:404-410.
130. Williamson T.L., Marszalek J.R., Vechio J.D., Bruijn L.I., Lee M.K., Xu Z., et al. Neurofilaments, radial growth of axons, and mechanisms of motor neuron disease. Cold Spring Harb. Symp. Quant. Biol. 1996, 709-723.
131. Williamson T.L., Cleveland D.W. Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons. Nat. Neurosci. 1999, 2:50-56.
132. Xia C.H., Roberts E.A., Her L.S., Liu X., Williams D.S., Cleveland D.W., Goldstein L.S. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. J. Cell Biol. 2003, 161:55-66.
133. Yamada K., Andrews C., Chan W.M., McKeown C.A., Magli A., de Berardinis T., et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat. Genet. 2003, 35:318-321.
134. Yang Y., Hentati A., Deng H.X., Dabbagh O., Sasaki T., Hirano M., et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat. Genet. 2001, 29:160-165.
135. Yoo S.Y., Pennesi M.E., Weeber E.J., Xu B., Atkinson R., Chen S., et al. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 2003, 37:383-401.
136. Zhao C., Takita J., Tanaka Y., Setou M., Nakagawa T., Takeda S., et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 2001, 105:587-597.
137. Zhang X., Smith D.L., Meriin A.B., Engemann S., Russe D.E., Roark M., et al. A potent small molecule inhibits polyglutamine aggregation in Huntington's disease neurons and suppresses neurodegeneration in vivo. Proc. Natl. Acad. Sci. USA 2005, 102:892-897.
138. Zuccato C., Ciammola A., Rigamonti D., Leavitt B.R., Goffredo D., Conti L., et al. Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 2001, 293:493-498.
139. Zuccato C., Tartari M., Crotti A., Goffredo D., Valenza M., Conti L., et al. Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat. Genet. 2003, 35:76-83.