Publications

2024

• Sepulveda-Falla D, Vélez JI, Acosta-Baena N, Baena A, Moreno S, Krasemann S, Lopera F, Mastronardi CA, Arcos-Burgos M. Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer’s disease. Alzheimers Dement. 2024 Mar 7. PMID: 38450831

• Almeida MC, Eger SJ, He C, Audouard M, Nikitina A, Glasauer SMK, Han D, Mejía-Cupajita B, Acosta-Uribe J, Villalba-Moreno ND, Littau JL, Elcheikhali M, Rivera EK, Carrettiero DC, Villegas-Lanau CA, Sepulveda-Falla D, Lopera F, Kosik KS. Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer’s disease profile and possible mechanisms of disease protection. Neuron. 2024 Feb 21:S0896-6273(24)00093-X. PMID: 38417436

• Marino C, Perez-Corredor P, O’Hare M, Heuer A, Chmielewska N, Gordon H, Chandrahas AS, Gonzalez-Buendia L, Delgado-Tirado S, Doan TH, Vanderleest TE, Arevalo-Alquichire S, Obar RA, Ortiz-Cordero C, Villegas A, Sepulveda-Falla D, Kim LA, Lopera F, Mahley R, Huang Y, Quiroz YT, Arboleda-Velasquez JF. APOE Christchurch-mimetic therapeutic antibody reduces APOE-mediated toxicity and tau phosphorylation. Alzheimers Dement. 2024 Feb;20(2):819-836. PMID: 37791598

2023

• Sepulveda-Falla D. Resistant and Resilient mutations in protection against familial Alzheimer’s disease: learning from nature. Mol Neurodegener. 2023 Jun 1;18(1):36. PMID: 37264439

• Lopera F, Marino C, Chandrahas AS, O’Hare M, Villalba-Moreno ND, Aguillon D, Baena A, Sanchez JS, Vila-Castelar C, Ramirez Gomez L, Chmielewska N, Oliveira GM, Littau JL, Hartmann K, Park K, Krasemann S, Glatzel M, Schoemaker D, Gonzalez-Buendia L, Delgado-Tirado S, Arevalo-Alquichire S, Saez-Torres KL, Amarnani D, Kim LA, Mazzarino RC, Gordon H, Bocanegra Y, Villegas A, Gai X, Bootwalla M, Ji J, Shen L, Kosik KS, Su Y, Chen Y, Schultz A, Sperling RA, Johnson K, Reiman EM, Sepulveda-Falla D, Arboleda-Velasquez JF, Quiroz YT. Resilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man. Nat Med. 2023 May;29(5):1243-1252. PMID: 37188781

• Panahi M, Hase Y, Gallart-Palau X, Mitra S, Watanabe A, Low RC, Yamamoto Y, Sepulveda-Falla D, Hainsworth AH, Ihara M, Sze SK, Viitanen M, Behbahani H, Kalaria RN. ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics. Acta Neuropathol Commun. 2023 May 8;11(1):76. PMID: 37158955

• Maestre G, Carrillo M, Kalaria R, Acosta D, Adams L, Adoukonou T, Akinwande K, Akinyemi J, Akinyemi R, Akpa O, Alladi S, Allegri R, Arizaga R, Arshad F, Arulogun O, Babalola D, Baiyewu O, Bak T, Bellaj T, Boshe J, Brayne C, Brodie-Mends D, Brown R, Cahn J, Cyrille N, Damasceno A, de Silva R, de Silva R, Djibuti M, Dreyer AJ, Ellajosyula R, Farombi T, Fongang B, Forner S, Friedland R, Garza N, Gbessemehlan A, Georgiou EE, Gouider R, Govia I, Grinberg L, Guerchet M, Gugssa S, Gumikiriza-Onoria JL, Gustafson D, Hogervorst E, Hornberger M, Ibanez A, Ihara M, Ismail O, Issac T, Jönsson L, Kaputu C, Karanja W, Karungi J, Tshala-Katumbay D, Kunkle B, Lee JH, Leroi I, Lewis R, Livingston G, Lopera F, Lwere K, Manes F, Mbakile-Mahlanza L, Mena P, Miller B, Millogo A, Mohamed A, Musyimi C, Mutiso V, Nakasujja N, Ndetei D, Nightingale S, Njamnshi AK, Novotni G, Nyamayaro P, Nyame S, Ogeng’o J, Ogunniyi A, Okada De Oliveira M, Okubadejo N, Orrell M, Orunmuyi A, Owolabi M, Paddick S, A Pericak-Vance M, Pirtosek Z, Potocnik F, Preston B, Raman R, Ranchod K, Rizig M, Rosselli M, Deepa R, Roy U, Salokhiddinov M, Sano M, Sarfo F, Satizabal CL, Sepulveda-Falla D, Seshadri S, Sexton C, Skoog I, St George-Hyslop P, Suemoto C, Tanner J, Thapa P, Toure K, Ucheagwu V, Udeh-Momoh C, Valcour V, Vance J, Varghese M, Vera J, Walker R, Weidner W, Sebastian W, Whitehead Gay P, Zetterberg H, Zewde Y; African Dementia Consortium. The Nairobi Declaration-Reducing the burden of dementia in low- and middle-income countries (LMICs): Declaration of the 2022 Symposium on Dementia and Brain Aging in LMICs. Alzheimers Dement. 2023 Mar 11. PMID: 36905253

• Acosta-Baena N, Lopera-Gómez CM, Jaramillo-Elorza MC, Velilla-Jiménez L, Villegas-Lanau CA, Sepúlveda-Falla D, Arcos-Burgos M, Lopera F. Early Depressive Symptoms Predict Faster Dementia Progression in Autosomal-Dominant Alzheimer’s Disease. J Alzheimers Dis. 2023 Feb 18. PMID: 36847011

2022

• Wang Y, Hartmann K, Thies E, Mohammadi B, Altmeppen H, Sepulveda-Falla D, Glatzel M, Krasemann S. Loss of Homeostatic Microglia Signature in Prion Diseases. Cells. 2022 Sep 21;11(19):2948. PMID: 36230910

• Henao-Restrepo J, López-Murillo C, Valderrama-Carmona P, Orozco-Santa N, Gomez J, Gutiérrez-Vargas J, Moraga R, Toledo J, Littau JL, Härtel S, Arboleda-Velásquez JF, Sepulveda-Falla D, Lopera F, Cardona-Gómez GP, Villegas A, Posada-Duque R. Gliovascular alterations in sporadic and familial Alzheimer’s disease: APOE3 Christchurch homozygote glioprotection. Brain Pathol. 2022 Sep 21:e13119. PMID: 36130084.

• Sepulveda-Falla D, Sanchez JS, Almeida MC, Boassa D, Acosta-Uribe J, Vila-Castelar C, Ramirez-Gomez L, Baena A, Aguillon D, Villalba-Moreno ND, Littau JL, Villegas A, Beach TG, White CL 3rd, Ellisman M, Krasemann S, Glatzel M, Johnson KA, Sperling RA, Reiman EM, Arboleda-Velasquez JF, Kosik KS, Lopera F, Quiroz YT. Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia. Acta Neuropathol. 2022 Sep;144(3):589-601. doi: 10.1007/s00401-022-02467-8. PMID:35838824.

• Littau JL, Velilla L, Hase Y, Villalba-Moreno ND, Hagel C, Drexler D, Osorio Restrepo S, Villegas A, Lopera F, Vargas S, Glatzel M, Krasemann S, Quiroz YT, Arboleda-Velasquez JF, Kalaria R, Sepulveda-Falla D. Evidence of beta amyloid independent small vessel disease in familial Alzheimer’s disease. Brain Pathol. 2022 Jun 13:e13097. doi: 10.1111/bpa.13097. PMID: 35695802.

• Wasilewski D, Villalba-Moreno ND, Stange I, Glatzel M, Sepulveda-Falla D, Krasemann S. Reactive Astrocytes Contribute to Alzheimer’s Disease-Related Neurotoxicity and Synaptotoxicity in a Neuron-Astrocyte Co-culture Assay. Front Cell Neurosci. 2022 Jan 21;15:739411. doi: 10.3389/fncel.2021.739411. PMID:35126055.

• Krasemann S, Haferkamp U, Pfefferle S, Woo MS, Heinrich F, Schweizer M, Appelt-Menzel A, Cubukova A, Barenberg J, Leu J, Hartmann K, Thies E, Littau JL, Sepulveda-Falla D, Zhang L, Ton K, Liang Y, Matschke J, Ricklefs F, Sauvigny T, Sperhake J, Fitzek A, Gerhartl A, Brachner A, Geiger N, König EM, Bodem J, Franzenburg S, Franke A, Moese S, Müller FJ, Geisslinger G, Claussen C, Kannt A, Zaliani A, Gribbon P, Ondruschka B, Neuhaus W, Friese MA, Glatzel M, Pless O. The blood-brain barrier is dysregulated in COVID-19 and serves as a CNS entry route for SARS-CoV-2. Stem Cell Reports. 2022 Feb 8;17(2):307-320. doi: 10.1016/j.stemcr.2021.12.011. Epub 2022 Jan 20. PMID: 35063125.

2021

• Kalaria RN, Sepulveda-Falla D. Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease. Am J Pathol. 2021 Nov;191(11):1888-1905. doi: 10.1016/j.ajpath.2021.07.004. Epub 2021 Jul 28. PMID: 34331941.

• Soto-Ospina A, Araque Marín P, Bedoya G, Sepulveda-Falla D, Villegas Lanau A. Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer’s Disease on the Orthosteric Site. Front Mol Biosci. 2021 Jun 2;8:649990. doi: 10.3389/fmolb.2021.649990. PMID: 34150846.

• O’Hare M, Amarnani D, Whitmore HAB, An M, Marino C, Ramos L, Delgado-Tirado S, Hu X, Chmielewska N, Chandrahas A, Fitzek A, Heinrich F, Steurer S, Ondruschka B, Glatzel M, Krasemann S, Sepulveda-Falla D, Lagares D, Pedron J, Bushweller JH, Liu P, Arboleda-Velasquez JF, Kim LA. Targeting Runt-Related Transcription Factor 1 Prevents Pulmonary Fibrosis and Reduces Expression of Severe Acute Respiratory Syndrome Coronavirus 2 Host Mediators. Am J Pathol. 2021 Jul;191(7):1193-1208. doi: 10.1016/j.ajpath.2021.04.006. Epub 2021 Apr 21. PMID: 33894177.

• Sepulveda-Falla D, Chavez-Gutierrez L, Portelius E, Vélez JI, Dujardin S, Barrera-Ocampo A, Dinkel F, Hagel C, Puig B, Mastronardi C, Lopera F, Hyman BT, Blennow K, Arcos-Burgos M, de Strooper B, Glatzel M. A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease. Acta Neuropathol. 2021 Feb;141(2):217-233. doi: 10.1007/s00401-020-02249-0. Epub 2020 Dec 14. PMID: 33319314.

2020

• Podlesniy P, Llorens F, Puigròs M, Serra N, Sepúlveda-Falla D, Schmidt C, Hermann P, Zerr I, Trullas R. Cerebrospinal Fluid Mitochondrial DNA in Rapid and Slow Progressive Forms of Alzheimer’s Disease. Int J Mol Sci. 2020 Aug 31;21(17):6298. doi: 10.3390/ijms21176298. PMID: 32878083.

• Dinkel F, Trujillo-Rodriguez D, Villegas A, Streffer J, Mercken M, Lopera F, Glatzel M, Sepulveda-Falla D. Decreased Deposition of Beta-Amyloid 1-38 and Increased Deposition of Beta-Amyloid 1-42 in Brain Tissue of Presenilin-1 E280A Familial Alzheimer’s Disease Patients. Front Aging Neurosci. 2020 Jul 28;12:220. doi: 10.3389/fnagi.2020.00220. PMID: 32848702.

• Palmqvist S, Janelidze S, Quiroz YT, Zetterberg H, Lopera F, Stomrud E, Su Y, Chen Y, Serrano GE, Leuzy A, Mattsson-Carlgren N, Strandberg O, Smith R, Villegas A, Sepulveda-Falla D, Chai X, Proctor NK, Beach TG, Blennow K, Dage JL, Reiman EM, Hansson O. Discriminative Accuracy of Plasma Phospho-tau217 for Alzheimer Disease vs Other Neurodegenerative Disorders. JAMA. 2020 Aug 25;324(8):772-781. doi: 10.1001/jama.2020.12134. PMID: 32722745.

• Quiroz YT, Zetterberg H, Reiman EM, Chen Y, Su Y, Fox-Fuller JT, Garcia G, Villegas A, Sepulveda-Falla D, Villada M, Arboleda-Velasquez JF, Guzmán-Vélez E, Vila-Castelar C, Gordon BA, Schultz SA, Protas HD, Ghisays V, Giraldo M, Tirado V, Baena A, Munoz C, Rios-Romenets S, Tariot PN, Blennow K, Lopera F. Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer’s disease kindred: a cross-sectional and longitudinal cohort study. Lancet Neurol. 2020 Jun;19(6):513-521. doi: 10.1016/S1474-4422(20)30137-X. Epub 2020 May 26. PMID: 32470423.

• Sabogal-Guáqueta AM, Arias-Londoño JD, Gutierrez-Vargas J, Sepulveda-Falla D, Glatzel M, Villegas-Lanau A, Cardona-Gómez GP. Common disbalance in the brain parenchyma of dementias: Phospholipid profile analysis between CADASIL and sporadic Alzheimer’s disease. Biochim Biophys Acta Mol Basis Dis. 2020 Aug 1;1866(8):165797. doi: 10.1016/j.bbadis.2020.165797. Epub 2020 Apr 14. PMID: 32302650.

• Rojas-Charry L, Calero-Martinez S, Morganti C, Morciano G, Park K, Hagel C, Marciniak SJ, Glatzel M, Pinton P, Sepulveda-Falla D. Susceptibility to cellular stress in PS1 mutant N2a cells is associated with mitochondrial defects and altered calcium homeostasis. Sci Rep. 2020 Apr 15;10(1):6455. doi:10.1038/s41598-020-63254-7. PMID: 32296078.

• Hermann M, Reumann R, Schostak K, Kement D, Gelderblom M, Bernreuther C, Frischknecht R, Schipanski A, Marik S, Krasemann S, Sepulveda-Falla D, Schweizer M, Magnus T, Glatzel M, Galliciotti G. Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin. Mol Cell Neurosci. 2020 Jan;102:103420. doi: 10.1016/j.mcn.2019.103420. Epub 2019 Dec 2. PMID: 31805346.

2019

• Muth C, Hartmann A, Sepulveda-Falla D, Glatzel M, Krasemann S. Phagocytosis of Apoptotic Cells Is Specifically Upregulated in ApoE4 Expressing Microglia in vitro. Front Cell Neurosci. 2019 May 3;13:181. doi: 10.3389/fncel.2019.00181. PMID: 31130847.

• Hartmann K, Sepulveda-Falla D, Rose IVL, Madore C, Muth C, Matschke J, Butovsky O, Liddelow S, Glatzel M, Krasemann S. Complement 3⁺-astrocytes are highly abundant in prion diseases, but their abolishment led to an accelerated disease course and early dysregulation of microglia. Acta Neuropathol Commun. 2019 May 22;7(1):83. doi: 10.1186/s40478-019-0735-1. PMID: 31118110.

• Arcos-Burgos M, Lopera F, Sepulveda-Falla D, Mastronardi C. Neural Plasticity during Aging. Neural Plast. 2019 Mar 26;2019:6042132. doi: 10.1155/2019/6042132. PMID: 31049053.

• Sepulveda-Falla D, Villegas A, Lopera F, Glatzel M. The Colombian-German network for neurodegenerative research: UndoAD. Lancet Neurol. 2019 Jan;18(1):29. doi: 10.1016/S1474-4422(18)30458-7. PMID: 30563680.

2018

• Krbot K, Hermann P, Skorić MK, Zerr I, Sepulveda-Falla D, Goebel S, Matschke J, Krasemann S, Glatzel M. Distinct microglia profile in Creutzfeldt-Jakob disease and Alzheimer’s disease is independent of disease kinetics. Neuropathology. 2018 Dec;38(6):591-600. doi: 10.1111/neup.12517. Epub 2018 Oct 15. PMID: 30318820.

2017

• Rasmussen J, Mahler J, Beschorner N, Kaeser SA, Häsler LM, Baumann F, Nyström S, Portelius E, Blennow K, Lashley T, Fox NC, Sepulveda-Falla D, Glatzel M, Oblak AL, Ghetti B, Nilsson KPR, Hammarström P, Staufenbiel M, Walker LC, Jucker M. Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer’s disease. Proc Natl Acad Sci U S A. 2017 Dec 5;114(49):13018-13023. doi: 10.1073/pnas.1713215114. Epub 2017 Nov 20. PMID: 29158413.

• Glatzel M, Sepulveda-Falla D. Losing sleep over mitochondria: a new player in the pathophysiology of fatal familial insomnia. Brain Pathol. 2017 Jan;27(1):107-108. doi: 10.1111/bpa.12410. PMID: 27350067.

2016

• 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. Mutations modifying sporadic Alzheimer’s disease age of onset. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1116-1130. doi: 10.1002/ajmg.b.32493. Epub 2016 Aug 30. PMID: 27573710.

• Barrera-Ocampo A, Arlt S, Matschke J, Hartmann U, Puig B, Ferrer I, Zürbig P, Glatzel M, Sepulveda-Falla D, Jahn H. Amyloid-β Precursor Protein Modulates the Sorting of Testican-1 and Contributes to Its Accumulation in Brain Tissue and Cerebrospinal Fluid from Patients with Alzheimer Disease. J Neuropathol Exp Neurol. 2016 Sep;75(9):903-16. doi: 10.1093/jnen/nlw065. Epub 2016 Aug 2. PMID:27486134.

• Friedrich C, von Bueren AO, Kolevatova L, Bernreuther C, Grob T, Sepulveda- Falla D, van den Boom L, Westphal M, Simon R, Glatzel M. Epidermal growth factor receptor overexpression is common and not correlated to gene copy number in ependymoma. Childs Nerv Syst. 2016 Feb;32(2):281-90. doi: 10.1007/s00381-015-2981-2. Epub 2015 Dec 21. PMID: 26686534.

• 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. APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease. Mol Psychiatry. 2016 Jul;21(7):916-24. doi:10.1038/mp.2015.177. Epub 2015 Dec 1. PMID: 26619808.

2015

• 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. Qualitative changes in human γ-secretase underlie familial Alzheimer’s disease. J Exp Med. 2015 Nov 16;212(12):2003-13. doi: 10.1084/jem.20150892. Epub 2015 Oct 19. PMID: 26481686.

2014

• 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. Familial Alzheimer’s disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis. J Clin Invest. 2014 Apr;124(4):1552-67. doi: 10.1172/JCI66407. Epub 2014 Feb 24. PMID: 24569455.

• Dohler F, Sepulveda-Falla D, Krasemann S, Altmeppen H, Schlüter H, Hildebrand D, Zerr I, Matschke J, Glatzel M. High molecular mass assemblies of amyloid-β oligomers bind prion protein in patients with Alzheimer’s disease. Brain. 2014 Mar;137(Pt 3):873-86. doi: 10.1093/brain/awt375. Epub 2014 Feb 10. PMID: 24519981.

• Bogner S, Bernreuther C, Matschke J, Barrera-Ocampo A, Sepulveda-Falla D, Leypoldt F, Magnus T, Haag F, Bergmann M, Brück W, Vogelgesang S, Glatzel M. Immune activation in amyloid-β-related angiitis correlates with decreased parenchymal amyloid-β plaque load. Neurodegener Dis. 2014;13(1):38-44. doi: 10.1159/000352020. Epub 2013 Sep 6. PMID: 24021982.

2013

• Castro-Gomez S, Barrera-Ocampo A, Machado-Rodriguez G, Castro-Alvarez JF, Glatzel M, Giraldo M, Sepulveda-Falla D. Specific de-SUMOylation triggered by acquisition of spatial learning is related to epigenetic changes in the rat hippocampus. Neuroreport. 2013 Dec 4;24(17):976-81. doi:10.1097/WNR.0000000000000025. PMID: 24089016.

• Pera M, Alcolea D, Sánchez-Valle R, Guardia-Laguarta C, Colom-Cadena M, Badiola N, Suárez-Calvet M, Lladó A, Barrera-Ocampo AA, Sepulveda-Falla D, Blesa R, Molinuevo JL, Clarimón J, Ferrer I, Gelpi E, Lleó A. Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease. Acta Neuropathol. 2013 Feb;125(2):201-13. doi: 10.1007/s00401-012-1062-9. Epub 2012 Dec 6. PMID: 23224319.

2012

• Sepulveda-Falla D, Glatzel M, Lopera F. Phenotypic profile of early-onset familial Alzheimer’s disease caused by presenilin-1 E280A mutation. J Alzheimers Dis. 2012;32(1):1-12. doi: 10.3233/JAD-2012-120907. PMID: 22766738.

2011

• Acosta-Baena N, Sepulveda-Falla D, Lopera-Gómez CM, Jaramillo-Elorza MC, Moreno S, Aguirre-Acevedo DC, Saldarriaga A, Lopera F. Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer’s disease: a retrospective cohort study. Lancet Neurol. 2011 Mar;10(3):213-20. doi: 10.1016/S1474-4422(10)70323-9. Epub 2011 Feb 4. PMID: 21296022.

• 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. Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer’s disease. Brain Pathol. 2011 Jul;21(4):452-63. doi: 10.1111/j.1750-3639.2010.00469.x. Epub 2011 Jan 27. PMID: 21159009.