Cystinosis: from gene to disease

被引：29

作者：

Kalatzis, V

Antignac, C

机构：

[1] Univ Paris 05, Hop Necker Enfants Malad, INSERM, U423, F-75270 Paris 06, France

[2] Univ Paris 05, Hop Necker Enfants Malad, Dept Genet, F-75270 Paris, France

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2002年 / 17卷 / 11期

关键词：

cystine; cystinosis; Fanconi syndrome; lysosome; transporter;

D O I：

10.1093/ndt/17.11.1883

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

[No abstract available]

引用

页码：1883 / 1886

页数：4

共 23 条

[1] Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS) [J].

Anikster, Y ;

Lucero, C ;

Touchman, JW ;

Huizing, M ;

McDowell, G ;

Shotelersuk, V ;

Green, ED ;

Gahl, WA .

MOLECULAR GENETICS AND METABOLISM, 1999, 66 (02) :111-116

[2] Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations [J].

Anikster, Y ;

Lucero, C ;

Guo, JR ;

Huizing, M ;

Shotelersuk, V ;

Bernardini, I ;

McDowell, G ;

Iwata, F ;

Kaiser-Kupfer, MI ;

Jaffe, R ;

Thoene, J ;

Schneider, JA ;

Gahl, WA .

PEDIATRIC RESEARCH, 2000, 47 (01) :17-23

[3] Severity of phenotype in cystinosis varies with mutations in the CTNS gene:: predicted effect on the model of cystinosin [J].

Attard, M ;

Jean, G ;

Forestier, L ;

Cherqui, S ;

van't Hoff, W ;

Broyer, M ;

Antignac, C ;

Town, M .

HUMAN MOLECULAR GENETICS, 1999, 8 (13) :2507-2514

[4]

BOIS E, 1976, J MED GENET, V13, P434, DOI 10.1136/jmg.13.6.434

[5] The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif [J].

Cherqui, S ;

Kalatzis, V ;

Trugnan, G ;

Antignac, C .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (16) :13314-13321

[6] ROLE OF ADENOSINE-TRIPHOSPHATE (ATP) AND NAK ATPASE IN THE INHIBITION OF PROXIMAL TUBULE TRANSPORT WITH INTRACELLULAR CYSTINE LOADING [J].

COOR, C ;

SALMON, RF ;

QUIGLEY, R ;

MARVER, D ;

BAUM, M .

JOURNAL OF CLINICAL INVESTIGATION, 1991, 87 (03) :955-961

[7] Molecular characterization of CTNS deletions in nephropathic cystinosis:: Development of a PCR-based detection assay [J].

Forestier, L ;

Jean, G ;

Attard, M ;

Cherqui, S ;

Lewis, C ;

van't Hoff, W ;

Broyer, M ;

Town, M ;

Antignac, C .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) :353-359

[8] CHARACTERISTICS OF CYSTINE COUNTER-TRANSPORT IN NORMAL AND CYSTINOTIC LYSOSOME-RICH LEUKOCYTE GRANULAR FRACTIONS [J].

GAHL, WA ;

TIETZE, F ;

BASHAN, N ;

BERNARDINI, I ;

RAIFORD, D ;

SCHULMAN, JD .

BIOCHEMICAL JOURNAL, 1983, 216 (02) :393-400

[9] CYSTINE TRANSPORT IS DEFECTIVE IN ISOLATED LEUKOCYTE LYSOSOMES FROM PATIENTS WITH CYSTINOSIS [J].

GAHL, WA ;

BASHAN, N ;

TIETZE, F ;

BERNARDINI, I ;

SCHULMAN, JD .

SCIENCE, 1982, 217 (4566) :1263-1265

[10]

Gahl WA, 1995, METABOLIC MOL BASIS, V7th, P3763

← 1 2 3 →