Inherited epithelial transporter disorders -: an overview

被引：7

作者：

Bergeron, M. J. ^{[1
]}

Simonin, A. ^{[1
]}

Buerzle, M. ^{[1
]}

Hediger, M. A. ^{[1
]}

机构：

[1] Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2008年 / 31卷 / 02期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1007/s10545-008-0861-6

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human genome project. Since then, the role of many transporter genes in human diseases has been elucidated. In this overview, we focus on inherited disorders of epithelial transporters. In particular, we review genetic defects of the genes encoding glucose transporters (SLC2 and SLC5 families) and amino acid transporters (SLC1, SLC3, SLC6 and SLC7 families).

引用

页码：178 / 187

页数：10

共 74 条

[31] Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder [J].

Kleta, R ;

Romeo, E ;

Ristic, Z ;

Ohura, T ;

Stuart, C ;

Arcos-Burgos, M ;

Dave, MH ;

Wagner, CA ;

Camargo, SRM ;

Inoue, S ;

Matsuura, N ;

Helip-Wooley, A ;

Bockenhauer, D ;

Warth, R ;

Bernardini, I ;

Visser, G ;

Eggermann, T ;

Lee, P ;

Chairoungdua, A ;

Jutabha, P ;

Babu, E ;

Nilwarangkoon, S ;

Anzai, N ;

Kanai, Y ;

Verrey, F ;

Gahl, WA ;

Koizumi, A .

NATURE GENETICS, 2004, 36 (09) :999-1002

[32] A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect [J].

Kosugi, S ;

Bhayana, S ;

Dean, HJ .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (09) :3248-3253

[33] Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients [J].

Kosugi, S ;

Inoue, S ;

Matsuda, A ;

Jhiang, SM .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (09) :3373-3376

[34] A novel peculiar mutation in the sodium/iodide symporter gene in Spanish siblings with iodide transport defect [J].

Kosugi, S ;

Okamoto, H ;

Tamada, A ;

Sanchez-Franco, F .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (08) :3830-3836

[35] Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects [J].

Lam, JT ;

Martín, MG ;

Turk, E ;

Hirayama, BA ;

Bosshard, NU ;

Steinmann, B ;

Wright, EM .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1999, 1453 (02) :297-303

[36]

LANDOWSKI CP, 2005, SELDIN GIEBISCHS KID, P91

[37] FANCONI-BICKEL SYNDROME [J].

MANZ, F ;

BICKEL, H ;

BRODEHL, J ;

FEIST, D ;

GELLISSEN, K ;

GESCHOLLBAUER, B ;

GILLI, G ;

HARMS, E ;

HELWIG, H ;

NUTZENADEL, W ;

WALDHERR, R .

PEDIATRIC NEPHROLOGY, 1987, 1 (03) :509-518

[38] Defects in Na+ glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption [J].

Martin, MG ;

Turk, E ;

Lostao, MP ;

Kerner, C ;

Wright, EM .

NATURE GENETICS, 1996, 12 (02) :216-220

[39] Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: A candidate gene for NIDDM susceptibility [J].

McVie-Wylie, AJ ;

Lamson, DR ;

Chen, YT .

GENOMICS, 2001, 72 (01) :113-117

[40] Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy [J].

Molinari, F ;

Raas-Rothschild, A ;

Rio, M ;

Fiermonte, G ;

Encha-Razavi, F ;

Palmieri, L ;

Palmieri, F ;

Ben-Neriah, Z ;

Kadhom, N ;

Vekemans, M ;

Attié-Bitach, T ;

Munnich, A ;

Rustin, P ;

Colleaux, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (02) :334-339

← 1 2 3 4 5 6 7 8 →