title: Cargos and genes: insights into vesicular transport from inherited human disease.
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.
authors.affiliation: Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research West, Edgbaston, Birmingham, B15 2TT, UK. p.gissen@bham.ac.uk
authors.forename: Paul
authors.initials: P
authors.lastname: Gissen
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D000818:Animals; D002451:Cell Compartmentation; D003598:Cytoskeletal Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007448:Invertebrates / Q000235:genetics / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D015388:Organelles / Q000378:metabolism / Q000648:ultrastructure; D010641:Phenotype; D021381:Protein Transport / Q000235:genetics*; D050600:SNARE Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D022161:Transport Vesicles / Q000235:genetics* / Q000378:metabolism; D015027:Zebrafish / Q000235:genetics / Q000378:metabolism; D020691:rab GTP-Binding Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D050600:SNARE Proteins; D020691:rab GTP-Binding Proteins