Traffic jam: A compendium of human diseases that affect intracellular transport processes

被引：213

作者：

Aridor, M

Hannan, LA

机构：

[1] Scripps Res Inst, Traff Editorial Off, La Jolla, CA 92037 USA

[2] Univ Pittsburgh, Sch Med, Dept Cell Biol & Physiol, Pittsburgh, PA 15261 USA

来源：

TRAFFIC | 2000年 / 1卷 / 11期

关键词：

disease; syndrome; traffic; transport;

D O I：

10.1034/j.1600-0854.2000.011104.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

As sequencing of the human genome nears completion, the genes that cause many human diseases are being identified and functionally described. This has revealed that many human diseases are due to defects of intracellular trafficking, This 'Toolbox' catalogs and briefly describes these diseases.

引用

收藏

页码：836 / 851

页数：16

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共 144 条

[31] The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family [J].

Dreyling, MH ;

MartinezCliment, JA ;

Zheng, M ;

Mao, J ;

Rowley, JD ;

Bohlander, SK .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (10) :4804-4809

[32] Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: Implications for Alzheimer's disease [J].

Ebneth, A ;

Godemann, R ;

Stamer, K ;

Illenberger, S ;

Trinczek, B ;

Mandelkow, EM ;

Mandelkow, E .

JOURNAL OF CELL BIOLOGY, 1998, 143 (03) :777-794

[33] Analysis of Arg834Gln and Va1902Glu type 2A von Willebrand disease mutations. Studies with recombinant von Willebrand factor and correlation with patient characteristics [J].

Englender, T ;

Lattuada, A ;

Mannucci, PM ;

Sadler, JE ;

Inbal, A .

BLOOD, 1996, 87 (07) :2788-2794

[34] EPS15, A NOVEL TYROSINE KINASE SUBSTRATE, EXHIBITS TRANSFORMING ACTIVITY [J].

FAZIOLI, F ;

MINICHIELLO, L ;

MATOSKOVA, B ;

WONG, WT ;

DIFIORE, PP .

MOLECULAR AND CELLULAR BIOLOGY, 1993, 13 (09) :5814-5828

[35] The hereditary hemochromatosis gene (HFE) - A MHC class I-like gene that functions in the regulation of iron homeostasis [J].

Feder, JN .

IMMUNOLOGIC RESEARCH, 1999, 20 (02) :175-185

[36] Proteasomal degradation of unassembled mutant type I collagen pro-α1(I) chains [J].

Fitzgerald, J ;

Lamandé, SR ;

Bateman, JF .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (39) :27392-27398

[37] Novel mechanism associated with an inherited cardiac arrhythmia - Defective protein trafficking by the mutant HERG (G601S) potassium channel [J].

Furutani, M ;

Trudeau, MC ;

Hagiwara, N ;

Seki, A ;

Gong, QM ;

Zhou, AF ;

Imamura, S ;

Nagashima, H ;

Kasanuki, H ;

Takao, A ;

Momma, K ;

January, CT ;

Robertson, GA ;

Matsuoka, R .

CIRCULATION, 1999, 99 (17) :2290-2294

[38] Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda [J].

Gedeon, AK ;

Colley, A ;

Jamieson, R ;

Thompson, EM ;

Rogers, J ;

Sillence, D ;

Tiller, GE ;

Mulley, JC ;

Gécz, J .

NATURE GENETICS, 1999, 22 (04) :400-404

[39] Presenilin mutants subvert chaperone function [J].

Gething, MJ .

NATURE CELL BIOLOGY, 2000, 2 (02) :E21-E23

[40] LYSOSOMAL STORAGE DISEASES [J].

GIESELMANN, V .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1995, 1270 (2-3) :103-136

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