CONGENITAL NULL MUTATIONS OF THE FOLR1 GENE: A PROGRESSIVE NEUROLOGIC DISEASE AND ITS TREATMENT

被引:50
作者
Cario, H. [1 ]
Bode, H. [1 ]
Debatin, K. -M. [1 ]
Opladen, T. [2 ]
Schwarz, K. [3 ,4 ]
机构
[1] Univ Hosp Ulm, Dept Pediat & Adolescent Med, D-89075 Ulm, Germany
[2] Univ Heidelberg Hosp, Dept Pediat & Adolescent Med, Heidelberg, Germany
[3] Univ Ulm, Inst Transfus Med, Ulm, Germany
[4] Univ Ulm, Inst Clin Transfus Med & Immunogenet, Ulm, Germany
关键词
BINDING-PROTEIN; FOLATE;
D O I
10.1212/WNL.0b013e3181c679df
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:2127 / 2129
页数:6
相关论文
共 8 条
[1]   Megalin binds and mediates cellular internalization of folate binding protein [J].
Birn, H ;
Zhai, XY ;
Holm, J ;
Hansen, SI ;
Jacobsen, C ;
Christensen, EI ;
Moestrup, SK .
FEBS JOURNAL, 2005, 272 (17) :4423-4430
[2]   Megalin and cubilin: Multifunctional endocytic receptors [J].
Christensen, EI ;
Birn, H .
NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2002, 3 (04) :258-268A
[3]  
De Marco P, 2000, AM J MED GENET, V95, P216, DOI 10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO
[4]  
2-F
[5]   Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development [J].
Piedrahita, JA ;
Oetama, B ;
Bennett, GD ;
van Waes, J ;
Kamen, BA ;
Richardson, J ;
Lacey, SW ;
Anderson, RGW ;
Finnell, RH .
NATURE GENETICS, 1999, 23 (02) :228-232
[6]   Autoantibodies to folate receptors in the cerebral folate deficiency syndrome [J].
Ramaekers, VT ;
Rothenberg, SP ;
Sequeira, JM ;
Opladen, T ;
Blau, N ;
Quadros, EV ;
Selhub, J .
NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (19) :1985-1991
[7]   Folate receptor endocytosis and trafficking [J].
Sabharanjak, S ;
Mayor, S .
ADVANCED DRUG DELIVERY REVIEWS, 2004, 56 (08) :1099-1109
[8]   Localization of the murine reduced folate carrier as assessed by immunohistochemical analysis [J].
Wang, YH ;
Zhao, RB ;
Russell, RG ;
Goldman, ID .
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES, 2001, 1513 (01) :49-54