메뉴 건너뛰기




Volumn 46, Issue 1, 2011, Pages 122-135

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1

Author keywords

Atlastin; Hereditary spastic paraplegia; NIPA1

Indexed keywords

ATLASTIN 1; MEMBRANE PROTEIN; NON IMPRINTED GENE IN PRADER WILLI ANGELMAN SYNDROME REGION 1 PROTEIN; UNCLASSIFIED DRUG;

EID: 78650906267     PISSN: 10447431     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcn.2010.08.012     Document Type: Article
Times cited : (25)

References (40)
  • 2
    • 13444309076 scopus 로고    scopus 로고
    • Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
    • Chen S., Song C., Guo H., Xu P., Huang W., Zhou Y., Sun J., Li C.X., Du Y., Li X., et al. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum. Mutat. 2005, 25:135-141.
    • (2005) Hum. Mutat. , vol.25 , pp. 135-141
    • Chen, S.1    Song, C.2    Guo, H.3    Xu, P.4    Huang, W.5    Zhou, Y.6    Sun, J.7    Li, C.X.8    Du, Y.9    Li, X.10
  • 3
    • 9444232285 scopus 로고    scopus 로고
    • The extent of axonal loss in the long tracts in hereditary spastic paraplegia
    • Deluca G.C., Ebers G.C., Esiri M.M. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol. Appl. Neurobiol. 2004, 30:576-584.
    • (2004) Neuropathol. Appl. Neurobiol. , vol.30 , pp. 576-584
    • Deluca, G.C.1    Ebers, G.C.2    Esiri, M.M.3
  • 6
    • 0037081740 scopus 로고    scopus 로고
    • Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
    • Errico A., Ballabio A., Rugarli E.I. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Mol. Genet. 2002, 11:153-163.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 153-163
    • Errico, A.1    Ballabio, A.2    Rugarli, E.I.3
  • 7
    • 33746094658 scopus 로고    scopus 로고
    • Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
    • Evans K., Keller C., Pavur K., Glasgow K., Conn B., Lauring B. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. P.N.A.S. 2006, 103:10666-10671.
    • (2006) P.N.A.S. , vol.103 , pp. 10666-10671
    • Evans, K.1    Keller, C.2    Pavur, K.3    Glasgow, K.4    Conn, B.5    Lauring, B.6
  • 8
    • 0032708407 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: heterogeneity and genotype/phenotype correlation
    • Fink J.K., Hedera P. Hereditary spastic paraplegia: heterogeneity and genotype/phenotype correlation. Semin. Neurol. 1999, 19:301-310.
    • (1999) Semin. Neurol. , vol.19 , pp. 301-310
    • Fink, J.K.1    Hedera, P.2
  • 9
  • 12
    • 5344275885 scopus 로고    scopus 로고
    • Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
    • Hedera P., Fenichel G.M., Blair M., Haines J.L. Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. Arch. Neurol. 2004, 61:1600-1603.
    • (2004) Arch. Neurol. , vol.61 , pp. 1600-1603
    • Hedera, P.1    Fenichel, G.M.2    Blair, M.3    Haines, J.L.4
  • 13
    • 27644465298 scopus 로고    scopus 로고
    • Magnetic resonance imaging analysis of the spinal cord atrophy in autosomal dominant hereditary spastic paraplegia
    • Hedera P., Eldevik P.O., Maly P., Rainier S., Fink J.K. Magnetic resonance imaging analysis of the spinal cord atrophy in autosomal dominant hereditary spastic paraplegia. Neuroradiology 2005, 47:730-734.
    • (2005) Neuroradiology , vol.47 , pp. 730-734
    • Hedera, P.1    Eldevik, P.O.2    Maly, P.3    Rainier, S.4    Fink, J.K.5
  • 16
    • 67349115341 scopus 로고    scopus 로고
    • Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development
    • Lee M., Paik S.K., Lee M.J., Kim Y.J., Kim S., Nahm M., Oh S.J., Kim H.M., Yim J., Lee C.J., et al. Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development. Dev. Biol. 2009, 330:250-262.
    • (2009) Dev. Biol. , vol.330 , pp. 250-262
    • Lee, M.1    Paik, S.K.2    Lee, M.J.3    Kim, Y.J.4    Kim, S.5    Nahm, M.6    Oh, S.J.7    Kim, H.M.8    Yim, J.9    Lee, C.J.10
  • 17
    • 57649183326 scopus 로고    scopus 로고
    • A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly
    • Lo W.Y., Botzolakis E.J., Tang X., Macdonald R.L. A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly. J. Biol. Chem. 2008, 283:29740-29752.
    • (2008) J. Biol. Chem. , vol.283 , pp. 29740-29752
    • Lo, W.Y.1    Botzolakis, E.J.2    Tang, X.3    Macdonald, R.L.4
  • 20
    • 77951172861 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    • Park S.H., Zhu P.P., Parker R.L., Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J. Clin. Invest. 2010, 120:1097-1110.
    • (2010) J. Clin. Invest. , vol.120 , pp. 1097-1110
    • Park, S.H.1    Zhu, P.P.2    Parker, R.L.3    Blackstone, C.4
  • 22
    • 0742288598 scopus 로고    scopus 로고
    • The dynamin superfamily: universal membrane tubulation and fission molecules?
    • Praefcke G.J., McMahon H.T. The dynamin superfamily: universal membrane tubulation and fission molecules?. Nat. Rev. Mol. Cell Biol. 2004, 5:133-147.
    • (2004) Nat. Rev. Mol. Cell Biol. , vol.5 , pp. 133-147
    • Praefcke, G.J.1    McMahon, H.T.2
  • 23
    • 0142122897 scopus 로고    scopus 로고
    • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
    • Rainier S., Chai J.H., Tokarz D., Nicholls R.D., Fink J.K. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 2003, 73:967-971.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 967-971
    • Rainier, S.1    Chai, J.H.2    Tokarz, D.3    Nicholls, R.D.4    Fink, J.K.5
  • 25
    • 0037328987 scopus 로고    scopus 로고
    • Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias
    • Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J. Med. Genet. 2003, 40:81-86.
    • (2003) J. Med. Genet. , vol.40 , pp. 81-86
    • Reid, E.1
  • 27
    • 55549094109 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms
    • Salinas S., Proukakis C., Crosby A., Warner T.T. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008, 7:1127-1138.
    • (2008) Lancet Neurol. , vol.7 , pp. 1127-1138
    • Salinas, S.1    Proukakis, C.2    Crosby, A.3    Warner, T.T.4
  • 29
    • 1542783703 scopus 로고    scopus 로고
    • Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
    • Sauter S.M., Engel W., Neumann L.M., Kunze J., Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum. Mutat. 2004, 23:98.
    • (2004) Hum. Mutat. , vol.23 , pp. 98
    • Sauter, S.M.1    Engel, W.2    Neumann, L.M.3    Kunze, J.4    Neesen, J.5
  • 31
    • 28444437387 scopus 로고    scopus 로고
    • Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
    • Soderblom C., Blackstone C. Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias. Pharmacol. Ther. 2006, 109:42-56.
    • (2006) Pharmacol. Ther. , vol.109 , pp. 42-56
    • Soderblom, C.1    Blackstone, C.2
  • 34
    • 33846631991 scopus 로고    scopus 로고
    • Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules
    • Wang X., Shaw W.R., Tsang H.T., Reid E., O'Kane C.J. Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules. Nat. Neurosci. 2007, 10:177-185.
    • (2007) Nat. Neurosci. , vol.10 , pp. 177-185
    • Wang, X.1    Shaw, W.R.2    Tsang, H.T.3    Reid, E.4    O'Kane, C.J.5
  • 37
    • 58149396830 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its C. elegans homolog trigger neural degeneration in vitro and in vivo through a gain of function mechanism
    • Zhao J., Matthies D.S., Botzolakis E.J., Macdonald R.L., Blakely R.D., Hedera P. Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its C. elegans homolog trigger neural degeneration in vitro and in vivo through a gain of function mechanism. J. Neurosci. 2008, 28:13938-13951.
    • (2008) J. Neurosci. , vol.28 , pp. 13938-13951
    • Zhao, J.1    Matthies, D.S.2    Botzolakis, E.J.3    Macdonald, R.L.4    Blakely, R.D.5    Hedera, P.6
  • 38
    • 0742281520 scopus 로고    scopus 로고
    • Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin
    • Zhu P.P., Patterson A., Lavoie B., Stadler J., Shoeb M., Patel R., Blackstone C. Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J. Biol. Chem. 2003, 278:49063-49071.
    • (2003) J. Biol. Chem. , vol.278 , pp. 49063-49071
    • Zhu, P.P.1    Patterson, A.2    Lavoie, B.3    Stadler, J.4    Shoeb, M.5    Patel, R.6    Blackstone, C.7
  • 39
    • 33645834754 scopus 로고    scopus 로고
    • SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development
    • Zhu P.P., Soderblom C., Tao-Cheng J.H., Stadler J., Blackstone C. SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum. Mol. Genet. 2006, 15:1343-1353.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 1343-1353
    • Zhu, P.P.1    Soderblom, C.2    Tao-Cheng, J.H.3    Stadler, J.4    Blackstone, C.5
  • 40
    • 34447543943 scopus 로고    scopus 로고
    • The genetics of hereditary spastic paraplegia and implications for drug therapy
    • Züchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opin. Pharmacother. 2007, 8:1433-1439.
    • (2007) Expert Opin. Pharmacother. , vol.8 , pp. 1433-1439
    • Züchner, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.