Chávez-Gutiérrez L - Search Results

1

A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.

O'Connor A, Abel E, Fraser MR, Ryan NS, Jiménez DA, Koriath C, Chávez-Gutiérrez L, Ansorge O, Mummery CJ, Lashley T, Rossor MN, Polke JM, Mead S, Fox NC. O'Connor A, et al. Neurobiol Aging. 2021 Jul;103:137.e1-137.e5. doi: 10.1016/j.neurobiolaging.2021.01.032. Epub 2021 Feb 5. Neurobiol Aging. 2021. PMID: 33648786

2

Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease.

Ryan NS, Biessels GJ, Kim L, Nicholas JM, Barber PA, Walsh P, Gami P, Morris HR, Bastos-Leite AJ, Schott JM, Beck J, Mead S, Chavez-Gutierrez L, de Strooper B, Rossor MN, Revesz T, Lashley T, Fox NC. Ryan NS, et al. Neurobiol Aging. 2015 Dec;36(12):3140-3151. doi: 10.1016/j.neurobiolaging.2015.08.026. Epub 2015 Sep 4. Neurobiol Aging. 2015. PMID: 26410308

3

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.

4

Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.

Veugelen S, Saito T, Saido TC, Chávez-Gutiérrez L, De Strooper B. Veugelen S, et al. Neuron. 2016 Apr 20;90(2):410-6. doi: 10.1016/j.neuron.2016.03.010. Neuron. 2016. PMID: 27100199 Free article.

5

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

Ryan NS, Nicholas JM, Weston PSJ, Liang Y, Lashley T, Guerreiro R, Adamson G, Kenny J, Beck J, Chavez-Gutierrez L, de Strooper B, Revesz T, Holton J, Mead S, Rossor MN, Fox NC. Ryan NS, et al. Lancet Neurol. 2016 Dec;15(13):1326-1335. doi: 10.1016/S1474-4422(16)30193-4. Epub 2016 Oct 21. Lancet Neurol. 2016. PMID: 27777022 Free article.

6

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. Neurobiol Dis. 2017 Aug;104:97-103. doi: 10.1016/j.nbd.2017.04.020. Epub 2017 Apr 28. Neurobiol Dis. 2017. PMID: 28461250

7

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. 2017 Jul 27;170(3):443-456.e14. doi: 10.1016/j.cell.2017.07.004. Cell. 2017. PMID: 28753424 Free article.

8

Extracellular interface between APP and Nicastrin regulates Aβ length and response to γ-secretase modulators.

Petit D, Hitzenberger M, Lismont S, Zoltowska KM, Ryan NS, Mercken M, Bischoff F, Zacharias M, Chávez-Gutiérrez L. Petit D, et al. EMBO J. 2019 Jun 17;38(12):e101494. doi: 10.15252/embj.2019101494. Epub 2019 May 20. EMBO J. 2019. PMID: 31109937 Free PMC article.

9

Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation.

Santos-Mandujano RA, Ryan NS, Chávez-Gutiérrez L, Sánchez-Torres C, Meraz-Ríos MA. Santos-Mandujano RA, et al. J Alzheimers Dis. 2020;73(3):1075-1083. doi: 10.3233/JAD-190978. J Alzheimers Dis. 2020. PMID: 31884479

10

Mechanisms of neurodegeneration - Insights from familial Alzheimer's disease.

Chávez-Gutiérrez L, Szaruga M. Chávez-Gutiérrez L, et al. Semin Cell Dev Biol. 2020 Sep;105:75-85. doi: 10.1016/j.semcdb.2020.03.005. Epub 2020 May 14. Semin Cell Dev Biol. 2020. PMID: 32418657 Review.

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