Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

被引:6
作者
Hirano, Michio [1 ]
Nishino, Ichizo [2 ]
Nishigaki, Yutaka [3 ]
Marti, Ramon
机构
[1] Columbia Univ, Med Ctr, New York, NY 10032 USA
[2] Natl Ctr Neurol & Psychiat, Tokyo, Japan
[3] Tokyo Metropolitan Inst Gerontol, Tokyo, Japan
关键词
MNGIE; mitochondrial; thymidine phosphorylase;
D O I
10.2169/internalmedicine.45.6064
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1103 / 1103
页数:1
相关论文
共 5 条
[1]   Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice [J].
Haraguchi, M ;
Tsujimoto, H ;
Fukushima, M ;
Higuchi, I ;
Kuribayashi, H ;
Utsumi, H ;
Nakayama, A ;
Hashizume, Y ;
Hirato, J ;
Yoshida, H ;
Hara, H ;
Hamano, S ;
Kawaguchi, H ;
Furukawa, T ;
Miyazono, K ;
Ishikawa, F ;
Toyoshima, H ;
Kaname, T ;
Komatsu, M ;
Chen, ZS ;
Gotanda, T ;
Tachiwada, T ;
Sumizawa, T ;
Miyadera, K ;
Osame, M ;
Yoshida, H ;
Noda, T ;
Yamada, Y ;
Akiyama, S .
MOLECULAR AND CELLULAR BIOLOGY, 2002, 22 (14) :5212-5221
[2]   Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE):: A disease of two genomes [J].
Hirano, M ;
Nishigaki, Y ;
Martí, R .
NEUROLOGIST, 2004, 10 (01) :8-17
[3]   Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [J].
Kumagai, Yukie ;
Sugiura, Yoshihiro ;
Sugeno, Hidekazu ;
Takebayashi, Yuji ;
Takenoshita, Seiichi ;
Yamamoto, Teiji .
INTERNAL MEDICINE, 2006, 45 (07) :443-446
[4]   Mitochondrial neurogastrointestinal encephalomyopathy and its pathophysiology [J].
Kurihara, Teruyuki .
INTERNAL MEDICINE, 2006, 45 (07) :415-416
[5]   Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder [J].
Nishino, I ;
Spinazzola, A ;
Hirano, M .
SCIENCE, 1999, 283 (5402) :689-692