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ALS-linked protein disulfide isomerase variants cause motor dysfunction.
Woehlbier U, Colombo A, Saaranen MJ, Pérez V, Ojeda J, Bustos FJ, Andreu CI, Torres M, Valenzuela V, Medinas DB, Rozas P, Vidal RL, Lopez-Gonzalez R, Salameh J, Fernandez-Collemann S, Muñoz N, Matus S, Armisen R, Sagredo A, Palma K, Irrazabal T, Almeida S, Gonzalez-Perez P, Campero M, Gao FB, Henny P, van Zundert B, Ruddock LW, Concha ML, Henriquez JP, Brown RH, Hetz C. Woehlbier U, et al. EMBO J. 2016 Apr 15;35(8):845-65. doi: 10.15252/embj.201592224. Epub 2016 Feb 11. EMBO J. 2016. PMID: 26869642 Free PMC article.
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
Bilches Medinas D, Malik S, Yıldız-Bölükbaşı E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, Díaz R, Rozas C, Cabral-Miranda F, Piña R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Bilches Medinas D, et al. Among authors: woehlbier u. EMBO J. 2022 Dec 17;41(2):e105531. doi: 10.15252/embj.2020105531. Epub 2021 Dec 14. EMBO J. 2022. PMID: 34904718 Free PMC article.
The Protein-disulfide Isomerase ERp57 Regulates the Steady-state Levels of the Prion Protein.
Torres M, Medinas DB, Matamala JM, Woehlbier U, Cornejo VH, Solda T, Andreu C, Rozas P, Matus S, Muñoz N, Vergara C, Cartier L, Soto C, Molinari M, Hetz C. Torres M, et al. Among authors: woehlbier u. J Biol Chem. 2015 Sep 25;290(39):23631-45. doi: 10.1074/jbc.M114.635565. Epub 2015 Jul 13. J Biol Chem. 2015. PMID: 26170458 Free PMC article.
Functional Role of the Disulfide Isomerase ERp57 in Axonal Regeneration.
Castillo V, Oñate M, Woehlbier U, Rozas P, Andreu C, Medinas D, Valdés P, Osorio F, Mercado G, Vidal RL, Kerr B, Court FA, Hetz C. Castillo V, et al. Among authors: woehlbier u. PLoS One. 2015 Sep 11;10(9):e0136620. doi: 10.1371/journal.pone.0136620. eCollection 2015. PLoS One. 2015. PMID: 26361352 Free PMC article.
Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis.
Beltran S, Nassif M, Vicencio E, Arcos J, Labrador L, Cortes BI, Cortez C, Bergmann CA, Espinoza S, Hernandez MF, Matamala JM, Bargsted L, Matus S, Rojas-Rivera D, Bertrand MJM, Medinas DB, Hetz C, Manque PA, Woehlbier U. Beltran S, et al. Among authors: woehlbier u. Mol Neurodegener. 2019 Mar 27;14(1):14. doi: 10.1186/s13024-019-0313-9. Mol Neurodegener. 2019. PMID: 30917850 Free PMC article.
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