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

The protein disulfide isomerase ERp57 regulates the steady-state levels of the prion protein

Torres, Mauricio ; Medinas,Danilo B. ; Matamala, José Manuel ; Woehlbier, Ute ; Cornejo, Víctor Hugo ; Solda, Tatiana ; Andreu, Catherine ; Rozas, Pablo ; Matus, Soledad ; Muñoz, Natalia ; Vergara, Carmen ; Cartier, Luis ; Soto, Claudio ; Molinari, Maurizio ; Hetz, Claudio

In: The journal of biological chemistry, 2015, vol. 290, no. 39, p. 23631-23645

Although the accumulation of a misfolded and protease-resistant form of the prion protein (PrP) is a key event in Prion pathogenesis, the cellular factors involved in its folding and quality control are poorly understood. PrP is a glycosylated and disulfide-bonded protein synthesized at the endoplasmic reticulum (ER). The ER foldase ERp57 (also known as Grp58) is highly expressed in the brain...