title: Inherited hematological disorders due to defects in coat protein (COP)II complex.
abstract: Many diseases attributed to trafficking defects are primary disorders of protein folding and assembly. However, an increasing number of disease states are directly attributable to defects in trafficking machinery. In this context, the cytoplasmic coat protein (COP)II complex plays a pivotal role: it mediates the anterograde transport of correctly folded secretory cargo from the endoplasmic reticulum towards the Golgi apparatus. This review attempts to describe the involvement of COPII complex alteration in the pathogenesis of human genetic disorders; particularly, we will focus on two disorders, the Congenital Dyserythropoietic Anemia type II and the Combined Deficiency of Factor V and VIII.
authors: CEINGE Biotecnologie Avanzate, University Federico II of Naples, Naples, Italy.
authors: Roberta
authors: R
authors: Russo
authors: Maria Rosaria
authors: MR
authors: Esposito
authors: Achille
authors: A
authors: Iolascon
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000378:metabolism; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000378:metabolism; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005166:Factor V Deficiency / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D006056:Golgi Apparatus / Q000378:metabolism; D006467:Hemophilia A / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics / Q000378:metabolism; D008286:Malabsorption Syndromes / Q000235:genetics / Q000378:metabolism; D037241:Mannose-Binding Lectins / Q000235:genetics* / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D033921:Vesicular Transport Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C084004:LMAN1 protein, human; C475146:MCFD2 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins; C512739:SEC23A protein, human; C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins; C513282:SAR1B protein, human; D020559:Monomeric GTP-Binding Proteins