Frataxin gene of Friedreich's ataxia is targeted to mitochondria

被引：84
|
作者：
Priller, J
Scherzer, CR
Faber, PW
MacDonald, ME
Young, AB
机构：
[1] MASSACHUSETTS GEN HOSP,NEUROL SERV,BOSTON,MA 02114
[2] HARVARD UNIV,SCH MED,BOSTON,MA
[3] MASSACHUSETTS GEN HOSP,MOL NEUROGENET UNIT,CHARLESTOWN,MA
来源：
ANNALS OF NEUROLOGY | 1997年 / 42卷 / 02期
关键词：
D O I：
10.1002/ana.410420222
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Friedreich's ataxia is caused by a triplet repeat expansion in intron 1, a noncoding region of the frataxin gene (X25). We have generated a chimeric gene composed of the frataxin gene fused with the green fluorescent protein (GFP) gene as a reporter. Transfection of the fusion construct into living COS cells revealed that the frataxin-GFP construct localizes to organelles that double-label with 8-(4'-chloromethyl) phenyl-2,3,5,6,11,12,14,15-octahydro-1H,4H,10H-13H-diquinolizino 8H-xanthylium chloride (CMXRos), a novel mitochondrial dye. Thus, frataxin appears to be a nuclear-encoded mitochondrial protein.
引用
收藏
页码：265 / 269
页数：5
相关论文
共 50 条
  • [31] The role of frataxin in fission yeast iron metabolism: Implications for Friedreich's ataxia
    Wang, Yu
    Wang, Yiwei
    Marcus, S.
    Busenlehner, L. S.
    BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2014, 1840 (10): : 3022 - 3033
  • [32] Friedreich's ataxia and the mitochondria: reconstituting the puzzle.
    Rotig, A
    Munnich, A
    Rustin, P
    M S-MEDECINE SCIENCES, 1998, 14 (01): : 104 - 105
  • [33] CHARACTERIZATION OF IN VIVO DISPOSITION OF CTI-1601: A MITOCHONDRIA TARGETED THERAPY FOR FRIEDREICH'S ATAXIA
    Gonzalez, Eric
    Wagner, Erik
    Mess, Nicholas
    Wang, Amy
    Payne, Mark
    Bettoun, David
    Ottinger, Elizabeth
    Rup, Bonnie
    Xu, Xin
    DRUG METABOLISM AND PHARMACOKINETICS, 2020, 35 (01) : S38 - S38
  • [34] TAT Conjugated Frataxin as a Nonviral Therapeutic Delivery System for Friedreich's Ataxia
    Vyas, Piyush M.
    CIRCULATION RESEARCH, 2008, 103 (05) : E43 - E44
  • [35] Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
    Kumari, Daman
    Hayward, Bruce
    Nakamura, Asako J.
    Bonner, William M.
    Usdin, Karen
    MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2015, 781 : 14 - 21
  • [36] Ferroxidase activity of frataxin, the protein deficient in Friedreich ataxia
    Gakh, O
    Park, S
    Mooney, SM
    O'Neill, HA
    Nichol, HK
    Pickering, IJ
    George, GN
    Mangravita, A
    Ferreira, GC
    Isaya, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 331 - 331
  • [37] Repeat expansion in intron 1 of the Frataxin gene reduces transcription initiation in Friedreich ataxia
    Kumari, Daman
    Biacsi, Rea Erika
    Usdin, Karen
    FASEB JOURNAL, 2011, 25
  • [38] Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene
    Klopstock, T
    Chahrokh-Zadeh, S
    Holinski-Feder, E
    Meindl, A
    Gasser, T
    Pongratz, D
    Müller-Felber, W
    ACTA NEUROPATHOLOGICA, 1999, 97 (02) : 139 - 142
  • [39] Markedly different course of Friedreich’s ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene
    T. Klopstock
    S. Chahrokh-Zadeh
    E. Holinski-Feder
    A. Meindl
    T. Gasser
    D. Pongratz
    W. Müller-Felber
    Acta Neuropathologica, 1999, 97 : 139 - 142
  • [40] Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia
    Chiang, Shannon
    Kovacevic, Zaklina
    Sahni, Sumit
    Lane, Darius J. R.
    Merlot, Angelica M.
    Kalinowski, Danuta S.
    Huang, Michael L. -H.
    Richardson, Des R.
    CLINICAL SCIENCE, 2016, 130 (11) : 853 - 870
12345