Missense mutations in the organic cation transporter OCTN2 in patients with primary carnitine deficiency.

被引:0
|
作者
Wang, Y
Taroni, F
Garavaglia, B
Cowan, T
Ye, J
Longo, N
机构
[1] Emory Univ, Atlanta, GA 30322 USA
[2] Ist Nazl Neurol C Besta, Milan, Italy
[3] Univ Maryland, Baltimore, MD 21201 USA
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
2450
引用
收藏
页码:A432 / A432
页数:1
相关论文
共 50 条
  • [1] Mutations in the organic cation carnitine transporter OCTN2 in primary carnitine deficiency
    Wang, YH
    Ye, J
    Ganapathy, V
    Longo, N
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (05) : 2356 - 2360
  • [2] Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
    Tang, NLS
    Ganapathy, V
    Wu, X
    Hui, J
    Seth, P
    Yuen, PMP
    Fok, TF
    Hjelm, NM
    HUMAN MOLECULAR GENETICS, 1999, 8 (04) : 655 - 660
  • [3] SILENT PRIMARY CARNITINE DEFICIENCY DUE TO A DEFICIENT ACTIVITY OF THE ORGANIC CATION/CARNITINE TRANSPORTER OCTN2
    Niezen-Koning, K. E.
    Rake, J. P.
    Armbrust, W.
    van de Sluijs, F. H.
    Bos, T.
    Reijngoud, D. J.
    Wanders, R. J. A.
    van Spronsen, F. J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 111 - 111
  • [4] A novel common mutation in OCTN2, carnitine transporter gene, in Southern Chinese patients with primary carnitine deficiency.
    Tang, NLS
    Hwu, WL
    Chan, RT
    Fung, SLM
    Law, LK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 488 - 488
  • [5] Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2
    Spiekerkoetter, U
    Huener, G
    Baykal, T
    Demirkol, M
    Duran, M
    Wanders, R
    Nezu, J
    Mayatepek, E
    JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (06) : 613 - 615
  • [6] Abnormal localization of OCTN2 carnitine transporters in primary carnitine deficiency.
    Longo, N
    Miller, N
    di San Filippo, CA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 446 - 446
  • [7] Glycosylation of the OCTN2 carnitine transporter: Study of natural mutations identified in patients with primary carnitine deficiency
    Filippo, Cristina Amat di San
    Ardon, Orly
    Longo, Nicola
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2011, 1812 (03): : 312 - 320
  • [8] Anticonvulsant inhibition of the organic cation/carnitine transporter (OCTN2)
    Lardizabal, DV
    Urban, TJ
    Giacomini, KM
    NEUROLOGY, 2004, 62 (07) : A32 - A33
  • [9] OCTN2 GENE MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY
    Yucel-Yilmaz, D.
    Ersoy, M.
    Candan, S.
    Balci, M.
    Kilic, M.
    Gokcay, G.
    Dursun, A.
    Ozgul, R. K.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S74 - S74
  • [10] Pharmacological rescue of mutant OCTN2 carnitine transporters in primary carnitine deficiency.
    di San Filippo, CA
    Longo, N
    MOLECULAR GENETICS AND METABOLISM, 2005, 84 (03) : 202 - 202