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
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 04期
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
  • [21] Localization And Function Of Carnitine/organic Cation Transporter OCTN2 In The Skeletal Muscles
    Furuichi, Yasuro
    Sugiura, Tomoko
    Kato, Yukio
    Shimada, Yuya
    Hashimoto, Takeshi
    Masuda, Kazumi
    MEDICINE AND SCIENCE IN SPORTS AND EXERCISE, 2010, 42 (05): : 567 - 568
  • [22] Organic cation/carnitine transporter, OCTN2, is differentially expressed in the adult rat epididymis
    Rodríguez, CM
    Labus, JC
    Hinton, BT
    BIOLOGY OF REPRODUCTION, 2002, 67 (01) : 314 - 319
  • [23] Expression and Localization of Carnitine/Organic Cation Transporter OCTN1 and OCTN2 in Ocular Epithelium
    Garrett, Qian
    Xu, Shunjiang
    Simmons, Peter A.
    Vehige, Joseph
    Flanagan, Judith L.
    Willcox, Mark D.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2008, 49 (11) : 4844 - 4849
  • [24] Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter
    Longo, N
    di San Filippo, A
    MOLECULAR GENETICS AND METABOLISM, 2004, 81 (03) : 176 - 176
  • [25] Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter
    di San Filippo, CA
    Longo, N
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (08) : 7247 - 7253
  • [26] Coding sequence mutations in carnitine transporter genes, CACT and OCTN2, exert long distance effects resulting in aberrant splicing and carnitine deficiency.
    Hsu, B
    Koo-McCoy, S
    Wang, Z
    Cederbaum, S
    Iacobazzi, V
    Palmieri, F
    Stanley, CA
    Ganguly, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 282 - 282
  • [27] Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells
    Elimrani, I
    Lahjouji, K
    Seidman, E
    Roy, MJ
    Mitchell, GA
    Qureshi, I
    AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY, 2003, 284 (05): : G863 - G871
  • [28] OCTN2 is not a canalicular organic cation transporter.
    Stack, LM
    Snow, KL
    Moseley, RH
    GASTROENTEROLOGY, 2000, 118 (04) : A933 - A933
  • [29] Colistin is substrate of the carnitine/organic cation transporter 2 (OCTN2, SLC22A5)
    Visentin, Michele
    Gai, Zhibo
    Torozi, Angelo
    Hiller, Christian
    Kullak-Ublick, Gerd A.
    DRUG METABOLISM AND DISPOSITION, 2017, 45 (12) : 1240 - 1244
  • [30] A novel upregulator of carnitine transporter, OCTN2
    Nagai, K
    Takikawa, O
    Miwa, S
    JOURNAL OF PHARMACOLOGICAL SCIENCES, 2005, 97 : 282P - 282P
12345