Mendelian disorders of membrane trafficking.

  title={Mendelian disorders of membrane trafficking.},
  author={Maria Antonietta De Matteis and Alberto Luini},
  journal={The New England journal of medicine},
  volume={365 10},
These disorders have taught us about the processes involved in packaging proteins for secretion. Though the disorders are rare, they shed light on processes that are thought to be involved in common diseases, such as Alzheimer's disease and type 2 diabetes. 

Figures and Tables from this paper

Inherited hematological disorders due to defects in coat protein (COP)II complex
This review attempts to describe the involvement of COPII complex alteration in the pathogenesis of human genetic disorders; particularly, it will focus on two disorders, the Congenital Dyserythropoietic Anemia type II and the Combined Deficiency of Factor V and VIII.
The dynamics of engineered resident proteins in the mammalian Golgi complex relies on cisternal maturation
Engineered Golgi-resident constructs that can be polymerized at will to prevent their recycling via Golgi carriers provide evidence for the cisternal maturation mechanism of secretory protein
A computational and experimental study of protein localisation determinants in the mammalian endomembrane system
This dissertation aims to provide a history of web exceptionalism from 1989 to 2002, a period chosen in order to explore its roots as well as specific cases up to and including the year in which descriptions of “Web 2.0” began to circulate.
Regulation of the COPII secretory machinery via focal adhesions and extracellular matrix signaling.
A novel role of focal adhesions and extracellular matrix signaling in the regulation of COPII subunit SEC23A is found, with implications for ER-to-Golgi transport.
Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease
Altered lysosomal localization and cytoskeleton disruption precede the neuroinflammatory pathways, axonal dystrophy and neuronal loss previously characterized in neuronal forms of Gaucher disease.
Chemical-genetic disruption of clathrin function spares adaptor complex 3–dependent endosome vesicle biogenesis
Clathrin–AP-3 association is dispensable for AP-3 vesicle budding from endosomes, which suggests that AP-3–clathrin interactions differ from those by which AP-1 and AP-2 adaptors productively engage
Structural studies of the ERGIC-53/MCFD2 glycoprotein transport receptor complex
The results highlight the importance of intact calcium binding EF-hand motifs for the structural stability of MCFD2 and point toward disruption of the ERGIC-53/MCFD2 interaction as the underlying mechanism for these mutations in causing F5F8D.
Sphingolipid Metabolism at the ER-Golgi Contact Zone and Its Impact on Membrane Trafficking
This review of sphingolipids describes the coordinated synthesis and transfer of lipids that occur at the endoplasmic reticulum (ER)-Golgi apparatus contact zones and discusses the impacts of lipid metabolism on membrane trafficking from the trans-GolGI network (TGN).


Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
The data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell.
Trafficking of lysosomal enzymes in normal and disease states.
  • S. Kornfeld
  • Biology, Medicine
    The Journal of clinical investigation
  • 1986
Cet article pass en revue les connaissances actuelles sur l'orientation des enzymes lysosomales vers leur cible et discute les anomalies de cette voie qui ont ete etablies jusqu'ici
Membrane Traffic and Muscle: Lessons from Human Disease
This review highlights the current understanding of the trafficking genes responsible for human myopathies and examines the proteins that underlie several human diseases of the skeletal muscle.
Mechanisms of regulated unconventional protein secretion
The phrase “GrpA could be required for the proper delivery of at least one specific factor to the plasma membrane...” should refer to figure 4, pathway 5, instead of figure 3, pathways 5.
Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin
This corrects the article to show that the method used to derive the H2O2 “spatially aggregating force” is a two-step process, rather than a single step, like in the previous version of this paper.
Quality control in the endoplasmic reticulum
Recent progress is discussed in understanding the conformation-specific sorting of proteins at the level of ER retention and export, which is important for the fidelity of cellular functions.
COPI-mediated Transport
The striking similarities that exist between the COPI system and the two other characterized types of vesicular carriers: COPII- and clathrin-coated vesicles are described.
Function and dysfunction of the PI system in membrane trafficking
Questions concerning the general principles of the organisation of the PI system and the coordination of the different PI‐metabolising enzymes remain to be addressed should be addressed through the integration of analyses of the protein interaction data of thePI enzymes and the PI targets with those of the ‘phenomes’ of the genetic diseases that involve these PI‐ METs.
Membrane motors.
One step at a time: endoplasmic reticulum-associated degradation
The current understanding of each step during ERAD, with emphasis on the factors that catalyse distinct activities is summarized, to highlight the importance of this pathway.