Characterization of gigaxonin, the defective protein in giant axonal neuropathy.

被引:0
|
作者
Bomont, P [1 ]
Koenig, M [1 ]
机构
[1] Inst Genet & Biol Mol & Cellulaire, Strasbourg, France
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2435
引用
收藏
页码:596 / 596
页数:1
相关论文
共 50 条
  • [1] Gigaxonin Regulates the Degradation of Intermediate Filament Proteins: Insights into Giant Axonal Neuropathy.
    Mahammad, S.
    Murthy, P. S.
    Didonna, A.
    Grin, B.
    Perrot, R.
    Bomont, P.
    Julien, J-P
    Opal, P.
    Kuczmarski, E.
    Goldman, R. D.
    MOLECULAR BIOLOGY OF THE CELL, 2012, 23
  • [2] Giant axonal neuropathy. A case report
    Yuan, Y
    Bergmann, M
    Gerfelmeyer, G
    Kuchelmeister, K
    PATHOLOGE, 1996, 17 (03): : 213 - 218
  • [3] A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
    Kang, James J.
    Liu, Isabelle Y.
    Wang, Marilene B.
    Srivatsan, Eri S.
    HUMAN GENETICS, 2016, 135 (07) : 675 - 684
  • [4] A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
    James J. Kang
    Isabelle Y. Liu
    Marilene B. Wang
    Eri S. Srivatsan
    Human Genetics, 2016, 135 : 675 - 684
  • [5] Giant Axonal Neuropathy: Gigaxonin Targets Intermediate Filaments For Degradation
    Mahammad, S.
    Murthy, P.
    Bilesimo, P.
    Israeli, E.
    Kuczmarski, E. R.
    Opal, P.
    Goldman, R. D.
    MOLECULAR BIOLOGY OF THE CELL, 2013, 24
  • [6] Giant Axonal Neuropathy: Gigaxonin Targets Intermediate Filaments For Degradation
    Mahammad, S.
    Murthy, P.
    Bilesimo, P.
    Israeli, E.
    Kuczmarski, E. R.
    Opal, P.
    Goldman, R. D.
    MOLECULAR BIOLOGY OF THE CELL, 2013, 24
  • [7] Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation
    Mahammad, Saleemulla
    Murthy, S. N. Prasanna
    Didonna, Alessandro
    Grin, Boris
    Israeli, Eitan
    Perrot, Rodolphe
    Bomont, Pascale
    Julien, Jean-Pierre
    Kuczmarski, Edward
    Opal, Puneet
    Goldman, Robert D.
    JOURNAL OF CLINICAL INVESTIGATION, 2013, 123 (05): : 1964 - 1975
  • [8] Giant axonal neuropathy (GAN) caused by mutations in the gigaxonin gene.
    Kuhlenbaumer, G
    Young, P
    Oberwittler, C
    Ringelstein, B
    Stogbauer, F
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 599 - 599
  • [9] Giant Axonal Neuropathy Caused by a Novel Compound Heterozygous Mutation in the Gigaxonin Gene
    Xu, Min
    Da, Yu-wei
    Liu, Lu
    Wang, Fen
    Jia, Jian-ping
    JOURNAL OF CHILD NEUROLOGY, 2013, 28 (10) : 1316 - 1319
  • [10] Restoration of Cytoskeleton Homeostasis After Gigaxonin Gene Transfer for Giant Axonal Neuropathy
    Mussche, Silke
    Devreese, Bart
    Kalburgi, Sahana Nagabhushan
    Bachaboina, Lavanya
    Fox, Jonathan C.
    Shih, Hung-Jui
    Van Coster, Rudy
    Samulski, R. Jude
    Gray, Steven J.
    HUMAN GENE THERAPY, 2013, 24 (02) : 209 - 219