Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2007 Sep;44(9):545-55.
doi: 10.1136/jmg.2007.050294. Epub 2007 May 25.

Cargos and genes: insights into vesicular transport from inherited human disease

Paul Gissen  1 , Eamonn R Maher
Affiliations
Review

Cargos and genes: insights into vesicular transport from inherited human disease

Paul Gissen et al. J Med Genet. 2007 Sep.

Abstract

Many cellular functions depend on the correct delivery of proteins to specific intracellular destinations. Mutations that alter protein structure and disrupt trafficking of the protein (the "cargo") occur in many genetic disorders. In addition, an increasing number of disorders have been linked to mutations in the genes encoding components of the vesicular transport machinery responsible for normal protein trafficking. We review the clinical phenotypes and molecular pathology of such inherited "protein-trafficking disorders", which provide seminal insights into the molecular mechanisms of protein trafficking. Further characterisation of this expanding group of disorders will provide a basis for developing new diagnostic techniques and treatment strategies and offer insights into the molecular pathology of common multifactorial diseases that have been linked to disordered trafficking mechanisms.

PubMed Disclaimer

Conflict of interest statement

Competing interests: None declared.

References

    1. Aridor M, Hannan L. Traffic Jam: a compendium of human diseases that affect intracellular transport processes. Traffic 20001826–851. - PubMed
    1. Aridor M, Hannan L. Traffic jams II: an update of diseases of intracellular transport. Traffic 20023781–790. - PubMed
    1. Palade G. Intracellular aspects of the process of protein synthesis. Science 1975189347–358. - PubMed
    1. Balch W E, Dunphy W G, Braell W A, Rothman J E. Reconstitution of the transport of protein between successive compartments of the Golgi measured by the coupled incorporation of clathrin coats and of other trafficking components N‐acetylglucosamine. Cell 198439405–416. - PubMed
    1. Novick P, Schekman R. Secretion and cell‐surface growth are blocked in a temperature‐sensitive mutant of Saccharomyces cerevisiae. Proc Natl Acad Sci USA 1979761858–1862. - PMC - PubMed

MeSH terms

Substances