The molecular bases of cystinuria and lysinuric protein intolerance

被引：88

作者：

Palacín, M

Borsani, G

Sebastio, G

机构：

[1] Univ Barcelona, Fac Biol, Dept Bioquim & Biol Mol, E-08028 Barcelona, Spain

[2] Telethon Inst Genet & Med, I-80131 Naples, Italy

[3] Univ Brescia, Dept Biomed Sci & Biotechnol, Div Biol & Genet, Brescia, Italy

[4] Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2001年 / 11卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(00)00198-2

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Cystinuria and lysinuric protein intolerance are inherited aminoacidurias caused by defective amino-acid transport activities linked to a family of heteromeric amino-acid transporters (HATs). HATs comprise two subunits: cc-expression of subunits 4F2hc and y(+)LAT-1 induces the efflux of dibasic amino acids from cells, whereas cc-expression of subunits rBAT and b(o,+)AT induces the renal reabsorption and intestinal absorption of cystine and dibasic amino acids at the brush border of epithelial cells. Recently, the role of b(o,t)AT (SLC7A9) in cystinuria (non Type I) and the role of y(+)LAT-1 (SLC7A7) in lysinuric protein intolerance have been demonstrated.

引用

页码：328 / 335

页数：8

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