title: Cell biology of membrane trafficking in human disease.
abstract: Understanding the molecular and cellular mechanisms underlying membrane traffic pathways is crucial to the treatment and cure of human disease. Various human diseases caused by changes in cellular homeostasis arise through a single gene mutation(s) resulting in compromised membrane trafficking. Many pathogenic agents such as viruses, bacteria, or parasites have evolved mechanisms to subvert the host cell response to infection, or have hijacked cellular mechanisms to proliferate and ensure pathogen survival. Understanding the consequence of genetic mutations or pathogenic infection on membrane traffic has also enabled greater understanding of the interactions between organisms and the surrounding environment. This review focuses on human genetic defects and molecular mechanisms that underlie eukaryote exocytosis and endocytosis and current and future prospects for alleviation of a variety of human diseases.
authors.affiliation: Endothelial Cell Biology Unit, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, United Kingdom.
authors.forename: Gareth J
authors.initials: GJ
authors.lastname: Howell
authors.forename: Zoe G
authors.initials: ZG
authors.lastname: Holloway
authors.forename: Christian
authors.initials: C
authors.lastname: Cobbold
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Monaco
authors.forename: Sreenivasan
authors.initials: S
authors.lastname: Ponnambalam
mesh_terms: D000818:Animals; D001692:Biological Transport; D002462:Cell Membrane / Q000502:physiology*; D002468:Cell Physiological Phenomena; D003599:Cytoskeleton / Q000378:metabolism; D004705:Endocytosis / Q000502:physiology*; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005089:Exocytosis / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D015316:Genetic Therapy; D006056:Golgi Apparatus / Q000378:metabolism; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology; D021601:trans-Golgi Network / Q000378:metabolism
chemical_list: D008565:Membrane Proteins