Metal transporters and disease

被引：80

作者：

Andrews, NC ^{[1
]}

机构：

[1] Childrens Hosp, HHMI Hematol, Boston, MA 02115 USA

来源：

CURRENT OPINION IN CHEMICAL BIOLOGY | 2002年 / 6卷 / 02期

关键词：

D O I：

10.1016/S1367-5931(02)00307-1

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Iron and copper are essential nutrients that must be meticulously regulated to exploit their usefulness in biological reactions while protecting against Their tendency to promote formation of toxic free-radicals, This review summarizes recently described steps in the transport of these metals, and explores how defects in these steps lead to human diseases including hemochromatosis, Menkes disease and Wilson disease.

引用

收藏

页码：181 / 186

页数：6

相关论文

共 55 条

[1] A novel mammalian iron-regulated protein involved in intracellular iron metabolism [J].

Abboud, S ;

Haile, DJ .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (26) :19906-19912

[2] Chemistry and biology of eukaryotic iron metabolism [J].

Aisen, P ;

Enns, C ;

Wessling-Resnick, M .

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY, 2001, 33 (10) :940-959

[3] Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor [J].

Bennett, MJ ;

Lebrón, JA ;

Bjorkman, PJ .

NATURE, 2000, 403 (6765) :46-53

[4]

BERNSTEIN SE, 1987, J LAB CLIN MED, V110, P690

[5] Molecular characterization of a case of atransferrinemia [J].

Beutler, E ;

Gelbart, T ;

Lee, P ;

Trevino, R ;

Fernandez, MA ;

Fairbanks, VF .

BLOOD, 2000, 96 (13) :4071-4074

[6] THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE [J].

BULL, PC ;

THOMAS, GR ;

ROMMENS, JM ;

FORBES, JR ;

COX, DW .

NATURE GENETICS, 1993, 5 (04) :327-337

[7] The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 [J].

Camaschella, C ;

Roetto, A ;

Cali, A ;

De Gobbi, M ;

Garozzo, G ;

Carella, M ;

Majorano, N ;

Totaro, A ;

Gasparini, P .

NATURE GENETICS, 2000, 25 (01) :14-15

[8] Juvenile and adult hemochromatosis are distinct genetic disorders [J].

Camaschella, C ;

Roetto, A ;

Cicilano, M ;

Pasquero, P ;

Bosio, S ;

Gubetta, L ;

Di Vito, F ;

Girelli, D ;

Totaro, A ;

Carella, M ;

Grifa, A ;

Gasparini, P .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1997, 5 (06) :371-375

[9] Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron [J].

Canonne-Hergaux, F ;

Gruenheid, S ;

Ponka, P ;

Gros, P .

BLOOD, 1999, 93 (12) :4406-4417

[10] ISOLATION OF A CANDIDATE GENE FOR MENKES DISEASE THAT ENCODES A POTENTIAL HEAVY-METAL BINDING-PROTEIN [J].

CHELLY, J ;

TUMER, Z ;

TONNESEN, T ;

PETTERSON, A ;

ISHIKAWABRUSH, Y ;

TOMMERUP, N ;

HORN, N ;

MONACO, AP .

NATURE GENETICS, 1993, 3 (01) :14-19

← 1 2 3 4 5 6 →