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Page 1
Cleavage site-directed antibodies reveal the prion protein in humans is shed by ADAM10 at Y226 and associates with misfolded protein deposits in neurodegenerative diseases.
Song F, Kovac V, Mohammadi B, Littau JL, Scharfenberg F, Matamoros Angles A, Vanni I, Shafiq M, Orge L, Galliciotti G, Djakkani S, Linsenmeier L, Černilec M, Hartman K, Jung S, Tatzelt J, Neumann JE, Damme M, Tschirner SK, Lichtenthaler SF, Ricklefs FL, Sauvigny T, Schmitz M, Zerr I, Puig B, Tolosa E, Ferrer I, Magnus T, Rupnik MS, Sepulveda-Falla D, Matschke J, Šmid LM, Bresjanac M, Andreoletti O, Krasemann S, Foliaki ST, Nonno R, Becker-Pauly C, Monzo C, Crozet C, Haigh CL, Glatzel M, Curin Serbec V, Altmeppen HC. Song F, et al. Among authors: sepulveda falla d. Acta Neuropathol. 2024 Jul 9;148(1):2. doi: 10.1007/s00401-024-02763-5. Acta Neuropathol. 2024. PMID: 38980441 Free PMC article.
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, Kosik KS. Arboleda-Velasquez JF, et al. Neurology. 2002 Jul 23;59(2):277-9. doi: 10.1212/wnl.59.2.277. Neurology. 2002. PMID: 12136071
A genetic cluster of early onset Parkinson's disease in a Colombian population.
Pineda-Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepulveda-Falla D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, Lopera F, Ruiz-Linares A. Pineda-Trujillo N, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):885-9. doi: 10.1002/ajmg.b.30375. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16941654
Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.
Sepulveda-Falla D, Matschke J, Bernreuther C, Hagel C, Puig B, Villegas A, Garcia G, Zea J, Gomez-Mancilla B, Ferrer I, Lopera F, Glatzel M. Sepulveda-Falla D, et al. Brain Pathol. 2011 Jul;21(4):452-63. doi: 10.1111/j.1750-3639.2010.00469.x. Epub 2011 Jan 27. Brain Pathol. 2011. PMID: 21159009 Free PMC article.
Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis.
Sepulveda-Falla D, Barrera-Ocampo A, Hagel C, Korwitz A, Vinueza-Veloz MF, Zhou K, Schonewille M, Zhou H, Velazquez-Perez L, Rodriguez-Labrada R, Villegas A, Ferrer I, Lopera F, Langer T, De Zeeuw CI, Glatzel M. Sepulveda-Falla D, et al. J Clin Invest. 2014 Apr;124(4):1552-67. doi: 10.1172/JCI66407. Epub 2014 Feb 24. J Clin Invest. 2014. PMID: 24569455 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.
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.
Vélez JI, Lopera F, Sepulveda-Falla D, Patel HR, Johar AS, Chuah A, Tobón C, Rivera D, Villegas A, Cai Y, Peng K, Arkell R, Castellanos FX, Andrews SJ, Silva Lara MF, Creagh PK, Easteal S, de Leon J, Wong ML, Licinio J, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Mol Psychiatry. 2016 Jul;21(7):916-24. doi: 10.1038/mp.2015.177. Epub 2015 Dec 1. Mol Psychiatry. 2016. PMID: 26619808 Free PMC article.
Mutations modifying sporadic Alzheimer's disease age of onset.
Vélez JI, Lopera F, Patel HR, Johar AS, Cai Y, Rivera D, Tobón C, Villegas A, Sepulveda-Falla D, Lehmann SG, Easteal S, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1116-1130. doi: 10.1002/ajmg.b.32493. Epub 2016 Aug 30. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27573710
54 results