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Università della Svizzera italiana

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 ...

Università della Svizzera italiana

ESCRT-III-driven piecemeal micro-ER-phagy remodels the ER during recovery from ER stress

Loi, Marisa ; Raimondi, Andrea ; Morone, Diego ; Molinari, Maurizio

In: Nature communications, 2019, vol. 10, p. 5058

The endoplasmic reticulum (ER) produces about 40% of the nucleated cell’s proteome. ER size and content in molecular chaperones increase upon physiologic and pathologic stresses on activation of unfolded protein responses (UPR). On stress resolution, the mammalian ER is remodeled to pre-stress, physiologic size and function on activation of the LC3-binding activity of the translocon...

Università della Svizzera italiana

Post ER quality control : a role for UDP-glucose : glycoprotein glucosyl transferase and p97

Fregno, Ilaria ; Molinari, Maurizio

In: Journal of rare diseases research & treatment, 2016, vol. 1, no. 1, p. 40-42

Human proteinopathies are diseases caused by the expression of defective gene products. In some cases, these diseases involve the degradation of mutant but otherwise functional proteins by the quality control system of the secretory pathway. Our recent study identified two proteins that play a role in post-endoplasmic reticulum (ER) quality control and are potential targets for therapeutic ...

Consortium of Swiss Academic Libraries

Transmembrane segment proteases

Martoglio, B.

In: Protoplasma, 1999, vol. 207, no. 3-4, p. 141-146

Université de Fribourg

Lipid droplets are functionally connected to the endoplasmic reticulum in Saccharomyces cerevisiae

Jacquier, Nicolas ; Choudhary, Vineet ; Mari, Muriel ; Toulmay, Alexandre ; Health and Human Services, Bethesda, USA ; Reggiori, Fulvio ; Schneiter, Roger

In: Journal of Cell Science, 2011, vol. 124, p. 2424-2437

Cells store metabolic energy in the form of neutral lipids that are deposited within lipid droplets (LDs). In this study, we examine the biogenesis of LDs and the transport of integral membrane proteins from the endoplasmic reticulum (ER) to newly formed LDs. In cells that lack LDs, otherwise LD-localized membrane proteins are homogenously distributed in the ER membrane. Under these conditions,...