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Endoplasmic reticulum and lysosomal quality control of four nonsense mutants of iduronate 2-sulfatase linked to Hunter’s syndrome

Marazza, Alessandro ; Galli, Carmela ; Fasana, Elisa ; Sgrignani, Jacopo ; Burda, Patricie ; Enrico M. A. Fassi ; Matthias Baumgartner ; Andrea Cavalli ; Maurizio Molinari

In: DNA and cell biology

Hunter’s syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate 2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of wild type IDS (IDSWT) and of four nonsense mutations of IDS (IDSL482X, IDSY452X, IDSR443X and IDSW337X) generating progressively shorter ...

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A novel UGGT1 and p97-dependent checkpoint for native ectodomains with ionizable intramembrane residue

Merulla, Jessica ; Tatiana Soldà ; Maurizio Molinari

In: Molecular biology of the cell, 2015, vol. 26, no. 8, p. 1413-1574

Only native polypeptides are released from the endoplasmic reticulum (ER) to be transported at the site of activity. Persistently misfolded proteins are retained and eventually selected for ER-associated degradation (ERAD). The paradox of a structure- based protein quality control is that functional polypeptides may be destroyed if they are architecturally unfit. This has health-threatening...

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