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Page 1
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: rozas p. 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.
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. Among authors: rozas p. 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.
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: rozas p. PLoS One. 2015 Sep 11;10(9):e0136620. doi: 10.1371/journal.pone.0136620. eCollection 2015. PLoS One. 2015. PMID: 26361352 Free PMC article.
13 results