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Page 1
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V, Breza M, Szaruga M, Vandrovcova J, Murphy D, Lee CJ, Alikhwan S, Bourinaris T, Vavougios G, Ilyas M, Halim SA, Al-Harrasi A, Kartanou C, Ronald C, Blumcke I, Alexoudi A, Gatzonis S, Stefanis L, Karadima G, Wood NW, Chávez-Gutiérrez L, Hardy J, Houlden H, Koutsis G. Chelban V, et al. Among authors: szaruga m. Alzheimers Dement (Amst). 2021 May 2;13(1):e12186. doi: 10.1002/dad2.12186. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 33969176 Free PMC article.
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D, Fernández SG, Zoltowska KM, Enzlein T, Ryan NS, O'Connor A, Szaruga M, Hill E, Vandenberghe R, Fox NC, Chávez-Gutiérrez L. Petit D, et al. Among authors: szaruga m. Mol Psychiatry. 2022 Jun;27(6):2821-2832. doi: 10.1038/s41380-022-01518-6. Epub 2022 Apr 1. Mol Psychiatry. 2022. PMID: 35365805 Free PMC article.
Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.
Szaruga M, Veugelen S, Benurwar M, Lismont S, Sepulveda-Falla D, Lleo A, Ryan NS, Lashley T, Fox NC, Murayama S, Gijsen H, De Strooper B, Chávez-Gutiérrez L. Szaruga M, et al. J Exp Med. 2015 Nov 16;212(12):2003-13. doi: 10.1084/jem.20150892. Epub 2015 Oct 19. J Exp Med. 2015. PMID: 26481686 Free PMC article.
Prodromal Alzheimer's Disease: Constitutive Upregulation of Neuroglobin Prevents the Initiation of Alzheimer's Pathology.
de Vidania S, Palomares-Perez I, Frank-García A, Saito T, Saido TC, Draffin J, Szaruga M, Chávez-Gutierrez L, Calero M, Medina M, Guix FX, Dotti CG. de Vidania S, et al. Among authors: szaruga m. Front Neurosci. 2020 Dec 3;14:562581. doi: 10.3389/fnins.2020.562581. eCollection 2020. Front Neurosci. 2020. PMID: 33343276 Free PMC article.
Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.
Le Guennec K, Veugelen S, Quenez O, Szaruga M, Rousseau S, Nicolas G, Wallon D, Fluchere F, Frébourg T, De Strooper B, Campion D, Chávez-Gutiérrez L, Rovelet-Lecrux A. Le Guennec K, et al. Among authors: szaruga m. Neurobiol Dis. 2017 Aug;104:97-103. doi: 10.1016/j.nbd.2017.04.020. Epub 2017 Apr 28. Neurobiol Dis. 2017. PMID: 28461250
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chávez-Gutiérrez L, Cleverley K, Noy S, Sheppard O, Collins T, Powell C, Sarell CJ, Rickman M, Choong X, Tosh JL, Siganporia C, Whittaker HT, Stewart F, Szaruga M; London Down syndrome consortium; Murphy MP, Blennow K, de Strooper B, Zetterberg H, Bannerman D, Holtzman DM, Tybulewicz VLJ, Fisher EMC; LonDownS Consortium. Wiseman FK, et al. Among authors: szaruga m. Brain. 2018 Aug 1;141(8):2457-2474. doi: 10.1093/brain/awy159. Brain. 2018. PMID: 29945247 Free PMC article.
Alzheimer's-causing mutations shift Aβ length by destabilizing γ-secretase-Aβn interactions.
Szaruga M, Munteanu B, Lismont S, Veugelen S, Horré K, Mercken M, Saido TC, Ryan NS, De Vos T, Savvides SN, Gallardo R, Schymkowitz J, Rousseau F, Fox NC, Hopf C, De Strooper B, Chávez-Gutiérrez L. Szaruga M, et al. Cell. 2021 Apr 15;184(8):2257-2258. doi: 10.1016/j.cell.2021.03.058. Cell. 2021. PMID: 33861967 Free article. No abstract available.
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