title: Calnexin family members as modulators of genetic diseases.
abstract: The endoplasmic reticulum (ER) is an intracellular compartment devoted to the synthesis, segregation and folding of soluble and membrane secretory proteins. Some mutations in these proteins lead to their incorrect or incomplete folding in the ER. The ER has a quality control system which detects misfolded proteins and then specifies their fate. Some mutated proteins are retained in the ER wherein they accumulate (Russell bodies for misfolded immunoglobulin heavy chains, the PiZZ for alpha 1-antitrypsin), others are retrotranslocated from the ER and degraded by the cytosolic proteasomal system, and yet other proteins are eventually secreted (in AZC-treated cells). In this review we summarize the role of ER resident proteins in quality control of mutated secretory proteins.
authors.affiliation: Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada. eh14@musica.mcgill.ca
authors.forename: E
authors.initials: E
authors.lastname: Chevet
authors.forename: C A
authors.initials: CA
authors.lastname: Jakob
authors.forename: D Y
authors.initials: DY
authors.lastname: Thomas
authors.forename: J J
authors.initials: JJ
authors.lastname: Bergeron
mesh_terms: D000595:Amino Acid Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000378:metabolism*; D037281:Calnexin; D003550:Cystic Fibrosis / Q000235:genetics / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000378:metabolism; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D010750:Phosphoproteins / Q000235:genetics* / Q000378:metabolism*; D017386:Sequence Homology, Amino Acid; D000515:alpha 1-Antitrypsin / Q000378:metabolism
chemical_list: C505032:CFTR protein, human; D002135:Calcium-Binding Proteins; D010750:Phosphoproteins; D000515:alpha 1-Antitrypsin; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D037281:Calnexin