Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

Human Molecular Genetics - Tập 17 Số 9 - Trang 1245-1252 - 2008
Bettina Ebbing1,2, Klaudiusz Mann1, Agata L. Starosta1, Johann Jaud2, Lüdger Schöls3, Rebecca Schüle3, Günther Woehlke2
1Institute for Cell Biology, University of Munich, Schillerstr. 42, D-80336 Munich, Germany
2Physics Department E22, Technical University Munich, James-Franck-Str., 85747 Garching, Germany
3Hertie-Institute for Clinical Brain Research, Otfried-Müller-Str. 3, 72076 Tübingen, Germany

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Tài liệu tham khảo

Woehlke, 2000, Walking on two heads: the many talents of kinesin, Nat. Rev. Mol. Cell Biol., 1, 50, 10.1038/35036069

Hirokawa, 2005, Molecular motors and mechanisms of directional transport in neurons, Nat. Rev. Neurosci., 6, 201, 10.1038/nrn1624

Hirokawa, 2004, Molecular motors in neuronal development, intracellular transport and diseases, Curr. Opin. Neurobiol., 14, 564, 10.1016/j.conb.2004.08.011

Vale, 1997, The design plan of kinesin motors, Ann. Rev. Cell Dev. Biol., 13, 745, 10.1146/annurev.cellbio.13.1.745

Hua, 1997, Coupling of kinesin steps to ATP hydrolysis, Nature, 388, 390, 10.1038/41118

Schnitzer, 1997, Kinesin hydrolyses one ATP per 8-nm step, Nature, 388, 386, 10.1038/41111

Hancock, 1998, Processivity of the motor protein kinesin requires two heads, J. Cell Biol., 140, 1395, 10.1083/jcb.140.6.1395

Hackney, 2003, Modulation of kinesin half-site ADP release and kinetic processivity by a spacer between the head groups, Biochemistry, 42, 12011, 10.1021/bi0349118

Barry, 2007, New movements in neurofilament transport, turnover and disease, Exp. Cell Res., 313, 2110, 10.1016/j.yexcr.2007.03.011

Brown, 2003, Axonal transport of membranous and nonmembranous cargoes: a unified perspective, J. Cell Biol., 160, 817, 10.1083/jcb.200212017

Shah, 2002, Slow axonal transport: fast motors in the slow lane, Curr. Opin. Cell Biol., 14, 58, 10.1016/S0955-0674(01)00294-0

Kanai, 2000, KIF5C, a novel neuronal kinesin enriched in motor neurons, J. Neurosci., 20, 6374, 10.1523/JNEUROSCI.20-17-06374.2000

Navone, 1992, Cloning and expression of a human kinesin heavy chain gene: interaction of the COOH-terminal domain with cytoplasmic microtubules in transfected CV-1 cells, J. Cell Biol., 117, 1263, 10.1083/jcb.117.6.1263

Niclas, 1994, Cloning and localization of a conventional kinesin motor expressed exclusively in neurons, Neuron, 12, 1059, 10.1016/0896-6273(94)90314-X

Xia, 2003, Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A, J. Cell Biol., 161, 55, 10.1083/jcb.200301026

Lo Giudice, 2006, A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia, Arch. Neurol., 63, 284, 10.1001/archneur.63.2.284

Blair, 2006, Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia, Neurogenetics, 7, 47, 10.1007/s10048-005-0027-8

Fichera, 2004, Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia, Neurology, 63, 1108, 10.1212/01.WNL.0000138731.60693.D2

Reid, 2002, A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10), Am. J. Hum. Genet., 71, 1189, 10.1086/344210

Gould, 2004, Neuropathology: many paths lead to hereditary spastic paraplegia, Curr. Biol., 14, R903, 10.1016/j.cub.2004.09.076

Casari, 2001, Molecular basis of inherited spastic paraplegias, Curr. Opin. Genet. Dev., 11, 336, 10.1016/S0959-437X(00)00199-4

Song, 1998, Decoupling of nucleotide- and microtubule-binding sites in a kinesin mutant, Nature, 396, 587, 10.1038/25153

Beetz, 2006, High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia, Neurology, 67, 1926, 10.1212/01.wnl.0000244413.49258.f5

Alonso, 1998, Proteolytic mapping of kinesin/ncd-microtubule interface: nucleotide-dependent conformational changes in the loops L8 and L12, EMBO J., 17, 945, 10.1093/emboj/17.4.945

Woehlke, 1997, Microtubule interaction site of the kinesin motor, Cell, 90, 207, 10.1016/S0092-8674(00)80329-3

Coppin, 1996, Detection of sub-8-nm movements of kinesin by high-resolution optical-trap microscopy, Proc. Natl Acad. Sci. USA, 93, 1913, 10.1073/pnas.93.5.1913

Jaud, 2006, Flexibility of the neck domain enhances Kinesin-1 motility under load, Biophys. J., 91, 1407, 10.1529/biophysj.105.076265

Kallipolitou, 2001, Unusual properties of the fungal conventional kinesin neck domain from Neurospora crassa, EMBO J., 20, 6226, 10.1093/emboj/20.22.6226

Hunt, 1993, Kinesin swivels to permit microtubule movement in any direction, Proc. Natl Acad. Sci. USA, 90, 11653, 10.1073/pnas.90.24.11653

Svoboda, 1993, Direct observation of kinesin stepping by optical trapping interferometry [see comments], Nature, 365, 721, 10.1038/365721a0

Huang, 1994, Drosophila kinesin minimal motor domain expressed in Escherichia coli. Purification and kinetic characterization, J. Biol. Chem., 269, 16493, 10.1016/S0021-9258(17)34033-4

Schafer, 2003, A conserved tyrosine in the neck of a fungal kinesin regulates the catalytic motor core, EMBO J., 22, 450, 10.1093/emboj/cdg036

Ding, 2004, Simultaneous quantitative and allele-specific expression analysis with real competitive PCR, BMC Genet., 5, 8, 10.1186/1471-2156-5-8

Miller, 1985, Cross-bridges mediate anterograde and retrograde vesicle transport along microtubules in squid axoplasm, J. Cell Biol., 101, 2181, 10.1083/jcb.101.6.2181

Ashkin, 1990, Force generation of organelle transport measured in vivo by an infrared laser trap [see comments], Nature, 348, 346, 10.1038/348346a0

Hill, 2004, Fast vesicle transport in PC12 neurites: velocities and forces, Eur. Biophys. J, 33, 623, 10.1007/s00249-004-0403-6

Yuan, 2006, Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS, J. Neurosci., 26, 10006, 10.1523/JNEUROSCI.2580-06.2006

Brown, 2005, Stochastic simulation of neurofilament transport in axons: the ‘Stop-and-Go’ hypothesis, Mol. Biol. Cell, 16, 4243, 10.1091/mbc.E05-02-0141

Craciun, 2005, A dynamical system model of neurofilament transport in axons, J. Theor. Biol., 237, 316, 10.1016/j.jtbi.2005.04.018

Mandelkow, 1985, Tubulin domains probed by limited proteolysis and subunit-specific antibodies, J. Mol. Biol., 185, 311, 10.1016/0022-2836(85)90406-1

Hyman, 1991, Preparation of modified tubulins, Meth. Enzymol., 196, 478, 10.1016/0076-6879(91)96041-O

Finer, 1994, Single myosin molecule mechanics: piconewton forces and nanometre steps, Nature, 368, 113, 10.1038/368113a0