Related Experiment Video
Updated: Jul 14, 2026

Optimizing Visualization of Axonal Transport of Endogenous Cargo by Fluorescence Microscopy in Living Caenorhabditis elegans
Published on: February 16, 2024
Cargos and genes: insights into vesicular transport from inherited human disease
1Department 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
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.
Related Concept Videos
Vesicular Tubular Clusters
With the help of motor proteins such...
Lysosomal Hydrolases
Overview of Secretory Vesicles
Various proteins regulate the aggregation of molecules inside the secretory vesicles. Chromogranins...
Transport Across the Golgi
Intralumenal Vesicles and Multivesicular Bodies
COP Coated Vesicles
