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
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
相关论文
共 144 条
  • [1] Akalin N., 1992, Human Mutation, V1, P40, DOI 10.1002/humu.1380010107
  • [2] Microvillus inclusion disease: A genetic defect affecting apical membrane protein traffic in intestinal epithelium
    Ameen, NA
    Salas, PJI
    [J]. TRAFFIC, 2000, 1 (01) : 76 - 83
  • [3] CDNA CLONING OF COMPONENT-A OF RAB GERANYLGERANYL TRANSFERASE AND DEMONSTRATION OF ITS ROLE AS A RAB ESCORT PROTEIN
    ANDRES, DA
    SEABRA, MC
    BROWN, MS
    ARMSTRONG, SA
    SMELAND, TE
    CREMERS, FPM
    GOLDSTEIN, JL
    [J]. CELL, 1993, 73 (06) : 1091 - 1099
  • [4] MUTATION OF THE SIGNAL PEPTIDE-ENCODING REGION OF THE PREPROPARATHYROID HORMONE GENE IN FAMILIAL ISOLATED HYPOPARATHYROIDISM
    ARNOLD, A
    HORST, SA
    GARDELLA, TJ
    BABA, H
    LEVINE, MA
    KRONENBERG, HM
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (04) : 1084 - 1087
  • [5] Identification of the homologous beige and Chediak-Higashi syndrome genes
    Barbosa, MDFS
    Nguyen, QA
    Tchernev, VT
    Ashley, JA
    Detter, JC
    Blaydes, SM
    Brandt, SJ
    Chotai, D
    Hodgman, C
    Solari, RCE
    Lovett, M
    Kingsmore, SF
    [J]. NATURE, 1996, 382 (6588) : 262 - 265
  • [6] A novel Rab6-interacting domain defines a family of Golgi-targeted coiled-coil proteins
    Barr, FA
    [J]. CURRENT BIOLOGY, 1999, 9 (07) : 381 - 384
  • [7] Cytoplasmic localization and the choice of ligand determine aggregate formation by androgen receptor with amplified polyglutamine stretch
    Becker, M
    Martin, E
    Schneikert, J
    Krug, HF
    Cato, ACB
    [J]. JOURNAL OF CELL BIOLOGY, 2000, 149 (02) : 255 - 262
  • [8] Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus
    Beuret, N
    Rutishauser, J
    Bider, MD
    Spiess, M
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (27) : 18965 - 18972
  • [9] Fibrinogen brescia -: Hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a γ284 Gly→Arg mutation
    Brennan, SO
    Wyatt, J
    Medicina, D
    Callea, F
    George, PM
    [J]. AMERICAN JOURNAL OF PATHOLOGY, 2000, 157 (01) : 189 - 196
  • [10] THE MUTANT ASN(291)-]SER HUMAN LIPOPROTEIN-LIPASE IS ASSOCIATED WITH REDUCED CATALYTIC ACTIVITY AND DOES NOT INFLUENCE BINDING TO HEPARIN
    BUSCA, R
    PEINADO, J
    VILELLA, E
    AUWERX, J
    DEEB, SS
    VILARO, S
    REINA, M
    [J]. FEBS LETTERS, 1995, 367 (03) : 257 - 262