Polyglutamine diseases and transport problems: Deadly traffic jams on neuronal highways

Archives of Neurology

Volumn 62, Issue 1, 2005, Pages 46-51

  Gunawardena, Shermali ^a   Goldstein, Lawrence S B ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONGO RED; CYSTAMINE; DYNEIN ADENOSINE TRIPHOSPHATASE; HUNTINGTIN; KINESIN; MINOCYCLINE; MOLECULAR MOTOR; MUTANT PROTEIN; POLYGLUTAMINE; VORINOSTAT;

CELL ORGANELLE; CONFERENCE PAPER; DEGENERATIVE DISEASE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; HUMAN; HUNTINGTON CHOREA; MOTONEURON; NERVE FIBER TRANSPORT; NEUROTOXICITY; NONHUMAN; PATHOGENESIS; POLYGLUTAMINE DISEASE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN FOLDING; SENSORY NERVE CELL; TRINUCLEOTIDE REPEAT;

ANIMALS; AXONAL TRANSPORT; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; MICROTUBULES; MODELS, BIOLOGICAL; NEUROTOXICITY SYNDROMES; PEPTIDES; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 12144280807     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.1.46     Document Type: Conference Paper

References (42)

1. Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ. Cell. 2001;105:587-597.
2. Reid E, Kloos M, Ahley-Koch A, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paralegia (SPG10). Am J Hum Genet. 2002; 71:1189-1194.
3. LaMonte BH, Wallace KE, Holloway BA, et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron. 2002;34:715-727.
4. Williamson TL, Cleveland DW. 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.
5. Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet. 2003; 33:455-456.
6. Hafezparast M, Klocke R, Ruhrberg C, et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science. 2003; 300:808-812.
7. Kamal A, Stokin G, Yang Z, Xia CH, Goldstein LS. Axonal transport of amyloid precursor protein is mediated bydirect binding to the kinesin light chain subunit of kinesin-I. Neuron. 2000;28:449-459.
8. Gunawardena S, Goldstein LS. Disruption of axonal transport and neuronal viability by amyloid precursor protein mutations in Drosophila. Neuron. 2001;32:389-401.
9. Kamal A, Almenar-Queralt A, LeBlanc JF, Roberts EA, Goldstein LS. Kinesin-mediated axonal transport of a membrane compartment containing β-secretase and presenilin-1 requires APP. Nature. 2001;414:643-648.
10. Takashima A, Murayama M, Muryama O, et al. Presenilin 1 associates with glycogen synthase kinase-3β and its substrate tau. Proc Natl Acad Sci U S A. 1998;95:9637-9641.
11. Pigino G, Morfini G, Pelsman A, Mattson MP, Brady ST, Busciglio J. Alzheimer's presenilin-1 mutations impair kinesin-based axonal transport. J Neurosci. 2003;23:4499-4508.
12. Morfini G, Szebenyi G, Elluru R, Ratner N, Brady ST. Glycogen synthase kinase 3 phosphorylates kinesin light chains and negatively regulates kinesin-based motility. EMBO J. 2002;21:281-293.
13. Evert BO, Wullner U, Klockgether T. Cell death in polyglutamine diseases. Cell Tissue Res. 2000; 301:189-204.
14. Wanker EE. Protein aggregation and pathogenesis of Huntington's disease: mechanism and correlations. Biol Chem. 2000;381:937-942.
15. Kuemmerle S, Gutekunst CA, Klein AM, et al. Huntington aggregates may no predict neuronal death in Huntington's disease. Ann Neurol. 1999; 46:842-849.
16. Tarlac V, Storey E. Role of proteolysis in polyglutamine disorders. J Neurosci Res. 2003;74: 406-416.
17. Menalled LB, Sison JD, Wu J, et al. Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice. J Neurosci. 2002;22:8266-8276.
18. Watase K, Weeber EJ, Xu B, et al. A long CAG repeat in the mouse SCA1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002; 34:905-919.
19. Yoo SY, Pennesi ME, Weeber EJ, 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.
20. Chen S, Berthelier V, Yang W, Wetzel R. Polyglutamine aggregation behavior in vitro supports a recruitment mechanism of cytotoxicity. J Mol Biol. 2001;311:173-182.
21. Piccioni F, Pinton P, Simeoni S, et al. Androgen receptor with elongated polyglutamine tract forms aggregates that alter axonal trafficking and mitochondrial distribution in motor neuronal processes. FASEB J. 2002;16:1418-1420.
22. Li H, Li SH, Johnston H, Shelbourne PF, Li XJ. Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet. 2000;25:385-389.
23. Li H, Li SH, Yu ZX, Shelbourne P, Li XJ. Huntingtin aggregate-associated axonal degeneration is an early pathological event in Huntington's disease mice. J Neurosci. 2001;21:8473-8481.
24. Klement IA, Skinner PJ, Kaytor MD, et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 1998;95:41-53.
25. Gunawardena S, Her L, Brusch RG, et al. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila Neuron. 2003;40:1-2.
26. Trushina E, Heldebrant MP, Perez-Terzic CM, et al. Microtubule destabilization and nuclear entry are sequential steps leading to toxicity in Huntington's disease. Proc Natl Acad Sci U S A. 2003; 100:12171-12176.
27. Li SH, Gutekunst CA, Hersch SM, Li XJ. Interaction of huntingtin-associated protein with dynactin P150Glued. J Neurosci. 1998;18:1261-1269.
28. Block-Galarza J, Chase KO, Sapp E, et al. Fast transport and retrograde movement of huntingtin and HAP 1 in axons. Neuroreport. 1997;8:2247-2251.
29. DiFiglia M, Sapp E, Chase K, et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron. 1995;14: 1075-1081.
30. DiFiglia M, Sapp E, Chase KO, et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science. 1997; 277:1990-1993.
31. Gunawardena S, Goldstein LS. Cargo-carrying motor vehicles on the neuronal highway: transport pathways and neurodegenerative disease. J Neurobiol. 2004;58:258-271.
32. Li X, Sharp AH, Li SH, Dawson TM, Snyder SH, Ross CA. Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase. Proc Natl Acad Sci U S A. 1996;93:4839-4844.
33. Engelender S, Sharp AH, Colomer V, et al. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. Hum Mol Genet. 1997;6:2205-2212.
34. Stowers RS, Megeath LJ, Gorska-Andrzejak J, Meinertzhagen IA, Schwarz TL. Axonal transport of mitochondria to synapses depends on milton, a novel Drosophila protein. Neuron. 2002;36:1063-1077.
35. Sapp E, Penney J, Young A, Aronin N, Vonsattel JP, 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.
36. Hurd DD, Saxton W. Kinesin mutations cause motor neuron disease phenotypes by disrupting fast axonal transport in Drosophila. Genetics. 1996; 144:1075-1085.
37. Cattaneo E, Rigamonti D, Goffredo D, Zuccato C, Squitieri F, Sipione S. Loss of normal huntingtin function: new developments in Huntington's disease research. Trends Neurosci. 2001;24:182-188.
38. Gauthier LR, Charrin BC, Borrell-Pages M, et al. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell. 2004;118: 127-138.
39. Szebenyi G, Morfini GA, Babcock A, et al. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron. 2003; 40:41-52.
40. Yang Q, Hashizume Y, Yoshida M, et al. Morphological Purkinje cell changes in spinocerebellar ataxia type 6. Acta Neuropathol (Berl). 2000; 100:371-376.
41. Lee WC, Yoshihara M, Littleton JT. Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease. Proc Natl Acad Sci U S A. 2004;101:3224-3229.
42. Bates GP, Hockly E. Experimental therapeutics in Huntington's disease: are models useful for therapeutic trials? Curr Opin Neurol. 2003;16:465-470.