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Università della Svizzera italiana

Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice

Volpi, Vera G. ; Ferri, Cinzia ; Fregno, Ilaria ; Del Carro, Ubaldo ; Bianchi, Francesca ; Scapin, Cristina ; Pettinato, Emanuela ; Solda, Tatiana ; Feltri, M. Laura ; Molinari, Maurizio ; Wrabetz, Lawrence ; D’Antonio, Maurizio

In: PLOS genetics, 2019, vol. 15, no. 4, p. e1008069

In the peripheral nervous system (PNS) myelinating Schwann cells synthesize large amounts of myelin protein zero (P0) glycoprotein, an abundant component of peripheral nerve myelin. In humans, mutations in P0 cause the demyelinating Charcot-Marie-Tooth 1B (CMT1B) neuropathy, one of the most diffused genetic disorders of the PNS. We previously showed that several mutations, such as the...

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 ...

Università della Svizzera italiana

Endoplasmic reticulum turnover : ER-phagy and other flavors in selective and non-selective ER clearance

Fregno, Ilaria ; Molinari, Maurizio

In: F1000Research, 2018, vol. 7, p. 454

The endoplasmic reticulum (ER) is a highly dynamic organelle in eukaryotic cells. It is deputed to lipid and protein biosynthesis, calcium storage, and the detoxification of various exogenous and endogenous harmful compounds. ER activity and size must be adapted rapidly to environmental and developmental conditions or biosynthetic demand. This is achieved on induction of thoroughly studied...

Università della Svizzera italiana

Chemical stresses fail to mimic the unfolded protein response resulting from luminal load with unfolded polypeptides

Bergmann, Timothy J. ; Fregno, Ilaria ; Fumagalli, Fiorenza ; Rinaldi, Andrea ; Bertoni, Francesco ; Boersema, Paul J. ; Picotti, Paola ; Molinari, Maurizio

In: Journal of biological chemistry, 2018, vol. 293, no. 15, p. 5600-5612

The stress sensors ATF6, IRE1, and PERK monitor deviations from homeostatic conditions in the endoplasmic reticulum (ER), a protein biogenesis compartment of eukaryotic cells. Their activation elicits unfolded protein responses (UPR) to reestablish proteostasis. UPR have been extensively investigated in cells exposed to chemicals that activate ER stress sensors by perturbing calcium, N-glycans,...

Università della Svizzera italiana

A selective ER‐phagy exerts procollagen quality control via a Calnexin‐FAM134B complex

Forrester, Alison ; Leonibus, Chiara De ; Grumati, Paolo ; Fasana, Elisa ; Piemontese, Marilina ; Staiano, Leopoldo ; Fregno, Ilaria ; Raimondi, Andrea ; Marazza, Alessandro ; Bruno, Gemma ; Iavazzo, Maria ; Intartaglia, Daniela ; Seczynska, Marta ; van Anken, Eelco ; Conte, Ivan ; De Matteis, Maria Antonietta ; Dikic, Ivan ; Molinari, Maurizio ; Settembre, Carmine

In: The EMBO Journal, 2019, vol. 38, no. 2, p. e99847

Autophagy is a cytosolic quality control process that recognizes substrates through receptor‐mediated mechanisms. Procollagens, the most abundant gene products in Metazoa, are synthesized in the endoplasmic reticulum (ER), and a fraction that fails to attain the native structure is cleared by autophagy. However, how autophagy selectively recognizes misfolded procollagens in the ER lumen is...