Publications

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Fazeli, E., Jan, A., Huber, A. K., Jensen, A. M. G., Fazeli, E., Klein, J., Merchant, K. & Andersen, O. M. (2026). A luminescent reporter assay to quantify SORL1 ectodomain shedding and retromer-dependent endosome recycling activity. Journal of Biological Chemistry, 302(2), Article 111136. https://doi.org/10.1016/j.jbc.2026.111136

de Waal, M. W. J., van der Lee, S. J., Lunding, M., Boonkamp, L., Barrett, N., Monti, G., Jensen, A. M. G., Vaegter, C. B., Raska, J., Cesnarikova, S., Sedmik, J., Trieu, C., Weiss, M. M., van Spaendonk, R., Vermunt, L., Ozhegov, G., Tesi, N., Hulsman, M., Januliene, D. ... Holstege, H. (2026). Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants. Alzheimer's & Dementia, 22(2), Article e71042. https://doi.org/10.1002/alz.71042

Andersen, O. M., de Waal, M. W. J., Monti, G., Tesi, N., Jensen, A. M. G., de Geus, C., van Spaendonk, R., Vogel, M., Ahmad, S., Amin, N., Amouyel, P., Beecham, G. W., Bellenguez, C., Berr, C., Bis, J. C., Boland, A., Bossù, P., Bouwman, F., Bras, J. ... Holstege, H. (2025). Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease. Molecular Neurodegeneration, 20(1), Article 122. https://doi.org/10.1186/s13024-025-00907-z

Juul-Madsen, K., Rudolph, I. M., Gomes, J. P., Meyer, K., Ovesen, P. L., Gorniak-Walas, M., Kokoli, M., Telugu, N. S., von Tangen Sivertsen, M., Febbraro, F., Sutherland, D. S., Palmfeldt, J., Diecke, S., Andersen, O. M., Selbach, M. & Willnow, T. E. (2025). Familial Alzheimer's disease mutation identifies novel role of SORLA in release of neurotrophic exosomes. Alzheimer's and Dementia, 21(9), Article e70591. https://doi.org/10.1002/alz.70591

Fazeli, E., Child, D. D., Bucks, S. A., Stovarsky, M., Edwards, G., Rose, S. E., Yu, C. E., Latimer, C., Kitago, Y., Bird, T., Jayadev, S., Andersen, O. M. & Young, J. E. (2024). A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting. Acta Neuropathologica, 147(1), Article 20. https://doi.org/10.1007/s00401-023-02670-1

Fazeli, E., Fazeli, E., Fojtík, P., Holstege, H. & Andersen, O. M. (2024). Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity. Philosophical Transactions of the Royal Society B: Biological Sciences, 379(1899), Article 20220377. https://doi.org/10.1098/rstb.2022.0377

Andersen, O. M., Monti, G., Jensen, A. M. G., de Waal, M. W. J., Hulsman, M., Olsen, J. G. & Holstege, H. (2024). Known disease-causing variants in homologous proteins help predict pathogenicity of SORL1 variants in Alzheimer’s disease. Alzheimer's & dementia : the journal of the Alzheimer's Association, 20(S1), Article e084835. https://doi.org/10.1002/alz.084835

Bøgh, N., Sørensen, C. B., Alstrup, A. K. O., Søvsø Szocska Hansen, E., Andersen, O. M. & Laustsen, C. (2024). Mice and minipigs with compromised expression of the Alzheimer's disease gene SORL1 show cerebral metabolic disturbances on hyperpolarized [1-¹³C]pyruvate and sodium MRI. Brain Communications, 6(2), Article fcae114. https://doi.org/10.1093/braincomms/fcae114

Kaminska, P., Ovesen, P. L., Jakiel, M., Obrebski, T., Schmidt, V., Draminski, M., Bilska, A. G., Bieniek, M., Anink, J., Paterczyk, B., Jensen, A. M. G., Piatek, S., Andersen, O. M., Aronica, E., Willnow, T. E., Kaminska, B., Dabrowski, M. J. & Malik, A. R. (2024). SorLA restricts TNFα release from microglia to shape a glioma-supportive brain microenvironment. EMBO Reports, 25(5), 2278-2305. https://doi.org/10.1038/s44319-024-00117-6

ADES‐consortium, ADSP consortium, StEP‐AD consortium, Knight‐ADRC, UCSF/NYGC/UAB (2024). The effect of specific SORL1 variants on Alzheimer’s Disease risk supports the existence of highly penetrant SORL1 variants. Alzheimer's & dementia : the journal of the Alzheimer's Association, 20, Article e084836. https://doi.org/10.1002/alz.084836

Jensen, A. M. G., Raska, J., Fojtik, P., Monti, G., Lunding, M., Bartova, S., Pospisilova, V., van der Lee, S. J., Van Dongen, J., Bossaerts, L., Van Broeckhoven, C., Dols-Icardo, O., Lléo, A., Bellini, S., Ghidoni, R., Hulsman, M., Petsko, G. A., Sleegers, K., Bohaciakova, D. ... Andersen, O. M. (2024). The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease. Proceedings of the National Academy of Sciences of the United States of America, 121(37), Article e2408262121. https://doi.org/10.1073/pnas.2408262121

Jensen, A. M. G., Kitago, Y., Fazeli, E., Vægter, C. B., Small, S. A., Petsko, G. A. & Andersen, O. M. (2023). Dimerization of the Alzheimer's disease pathogenic receptor SORLA regulates its association with retromer. Proceedings of the National Academy of Sciences (PNAS), 120(4), Article e2212180120. https://doi.org/10.1073/pnas.2212180120

Monti, G., Vincke, C., Lunding, M., Jensen, A. M. G., Madsen, P., Muyldermans, S., Kjolby, M. & Andersen, O. M. (2023). Epitope mapping of nanobodies binding the Alzheimer's disease receptor SORLA. Journal of Biotechnology, 375, 17-27. https://doi.org/10.1016/j.jbiotec.2023.08.005

Young, J. E., Holstege, H., Andersen, O. M., Petsko, G. A. & Small, S. A. (2023). On the causal role of retromer-dependent endosomal recycling in Alzheimer’s disease. Nature Cell Biology, 25(10), 1394-1397. https://doi.org/10.1038/s41556-023-01245-2

Andersen, O. M., Bøgh, N., Landau, A. M., Pløen, G. G., Jensen, A. M. G., Monti, G., Ulhøi, B. P., Nyengaard, J. R., Jacobsen, K. R., Jørgensen, M. M., Holm, I. E., Kristensen, M. L., Alstrup, A. K. O., Hansen, E. S. S., Teunissen, C. E., Breidenbach, L., Droescher, M., Liu, Y., Pedersen, H. S. ... Sørensen, C. B. (2022). A genetically modified minipig model for Alzheimer's disease with SORL1 haploinsufficiency. Cell Reports Medicine, 3(9), Article 100740. https://doi.org/10.1016/j.xcrm.2022.100740

Salasova, A., Monti, G., Andersen, O. M. & Nykjaer, A. (2022). Finding memo: versatile interactions of the VPS10p-Domain receptors in Alzheimer’s disease. Molecular Neurodegeneration, 17(1), Article 74. https://doi.org/10.1186/s13024-022-00576-2

Ulrichsen, M., Gonçalves, N. P., Mohseni, S., Hjæresen, S., Lisle, T. L., Molgaard, S., Madsen, N. K., Andersen, O. M., Svenningsen, Å. F., Glerup, S., Nykjær, A. & Vægter, C. B. (2022). Sortilin Modulates Schwann Cell Signaling and Remak Bundle Regeneration Following Nerve Injury. Frontiers in Cellular Neuroscience, 16, Article 856734. https://doi.org/10.3389/fncel.2022.856734

Mishra, S., Knupp, A., Szabo, M. P., Williams, C. A., Kinoshita, C., Hailey, D. W., Wang, Y., Andersen, O. M. & Young, J. E. (2022). The Alzheimer’s gene SORL1 is a regulator of endosomal traffic and recycling in human neurons. Cellular and Molecular Life Sciences, 79(3), Article 162. https://doi.org/10.1007/s00018-022-04182-9

Al-Akhrass, H., Conway, J. R. W., Poulsen, A. S. A., Paatero, I., Kaivola, J., Padzik, A., Andersen, O. M. & Ivaska, J. (2021). A feed-forward loop between SorLA and HER3 determines heregulin response and neratinib resistance. Oncogene, 40(7), 1300-1317. https://doi.org/10.1038/s41388-020-01604-5

Simoes, S., Guo, J., Buitrago, L., Qureshi, Y. H., Feng, X., Kothiya, M., Cortes, E., Patel, V., Kannan, S., Kim, Y. H., Chang, K. T., Alzheimer's Disease Neuroimaging Initiative, Hussaini, S. A., Moreno, H., Di Paolo, G., Andersen, O. M. & Small, S. A. (2021). Alzheimer's vulnerable brain region relies on a distinct retromer core dedicated to endosomal recycling. Cell Reports, 37(13), Article 110182. https://doi.org/10.1016/j.celrep.2021.110182

Monti, G., Kjolby, M., Jensen, A. M. G., Allen, M., Reiche, J., Møller, P. L., Comaposada-Baró, R., Zolkowski, B. E., Vieira, C., Jørgensen, M. M., Holm, I. E., Valdmanis, P. N., Wellner, N., Vægter, C. B., Lincoln, S. J., Nykjær, A., Ertekin-Taner, N., Young, J. E., Nyegaard, M. & Andersen, O. M. (2021). Expression of an alternatively spliced variant of SORL1 in neuronal dendrites is decreased in patients with Alzheimer's disease. Acta Neuropathologica Communications, 9(1), Article 43. https://doi.org/10.1186/s40478-021-01140-7

Andersen, O. M., Bøgh, N., Landau, A., Pløen, G. G., Jensen, A. M. G., Monti, G., Ulhøi, B. P., Nyengaard, J. R., Jacobsen, K. R., Jørgensen, M. M., Holm, I. E., Kristensen, M. L., Søvsø Szocska Hansen, E., Teunissen, C. E., Breidenbach, L., Droescher, M., Liu, Y., Pedersen, H. S., Callesen, H. ... Sørensen, C. B. (2021). In vivo evidence that SORL1, encoding the endosomal recycling receptor SORLA, can function as a causal gene in Alzheimer´s Disease. http://biorxiv.org/content/early/2021/07/13/2021.07.13.452149

Kjolby, M., Pedersen, K. M., Breining, P., Wellner, N., Sørensen, K. M. J., Vittrup, D. M., Gjesing, A. M. P., Januliene, D., Manavalan, A., Rotman, M., Thotakura, G., Skeldal, S., Madsen, P., Thirup, S., Hermey, G., Vaegter, C. B., Möller, A., Asplund, O., Prasad, R. B. ... Nykjaer, A. (2020). SorCS1 binds the insulin receptor to enhance insulin sensitivity. bioRxiv. https://doi.org/10.1101/2020.11.10.376178

Monti, G., Jensen, M. L., Mehmedbasic, A., Jørgensen, M. M., Holm, I. E., Barkholt, P., Zole, E., Vægter, C. B., Vorum, H., Nyengaard, J. R. & Andersen, O. M. (2020). SORLA Expression in Synaptic Plexiform Layers of Mouse Retina. Molecular Neurobiology, 57(7), 3106-3117. https://doi.org/10.1007/s12035-020-01946-x

Gonçalves, N. P., Mohseni, S., El Soury, M., Ulrichsen, M., Richner, M., Xiao, J., Wood, R. J., Andersen, O. M., Coulson, E. J., Raimondo, S., Murray, S. S. & Vægter, C. B. (2019). Peripheral Nerve Regeneration Is Independent From Schwann Cell p75NTR Expression. Frontiers in Cellular Neuroscience, 13, Article 235. https://doi.org/10.3389/fncel.2019.00235

Pietilä, M., Sahgal, P., Peuhu, E., Jäntti, N. Z., Paatero, I., Närvä, E., Al-Akhrass, H., Lilja, J., Georgiadou, M., Andersen, O. M., Padzik, A., Sihto, H., Joensuu, H., Blomqvist, M., Saarinen, I., Boström, P. J., Taimen, P. & Ivaska, J. (2019). SORLA regulates endosomal trafficking and oncogenic fitness of HER2. Nature Communications, 10(1), 1-16. Article 2340. https://doi.org/10.1038/s41467-019-10275-0