Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

Autor: Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)

Abstract Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associate

Externí odkaz: https://doaj.org/article/07eaa87799dd4d0f92bc88b303182da0

HiPR: High-throughput probabilistic RNA structure inference

Autor: Pavel P. Kuksa, Fan Li, Sampath Kannan, Brian D. Gregory, Yuk Yee Leung, Li-San Wang

Publikováno v: Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 1539-1547 (2020)

Recent high-throughput structure-sensitive genome-wide sequencing-based assays have enabled large-scale studies of RNA structure, and robust transcriptome-wide computational prediction of individual RNA structures across RNA classes from these assays

Externí odkaz: https://doaj.org/article/de3fedfa78854e368c4a272875c8e3c1

New insights into the genetic etiology of Alzheimer's disease and related dementias

Autor: Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., Yaqub, A., Prokic, I., Chapuis, J., Ahmad, S., Giedraitis, V., Aarsland, D., Garcia-Gonzalez, P., Abdelnour, C., Alarcón-Martín, E., Alcolea, D., Alegret, M., Alvarez, I., Álvarez, V., Armstrong, N. J., Tsolaki, A., Antúnez, C., Appollonio, I., Arcaro, M., Archetti, S., Pastor, A. A., Arosio, B., Athanasiu, L., Bailly, H., Banaj, N., Baquero, M., Barral, S., Beiser, A., Pastor, A. B., Below, J. E., Benchek, P., Benussi, L., Berr, C., Besse, C., Bessi, V., Binetti, G., Bizarro, A., Blesa, R., Boada, M., Boerwinkle, E., Borroni, B., Boschi, S., Bossù, P., Bråthen, G., Bressler, J., Bresner, C., Brodaty, H., Brookes, K. J., Brusco, L. I., Buiza-Rueda, D., Bûrger, K., Burholt, V., Bush, W. S., Calero, M., Cantwell, L. B., Chene, G., Chung, J., Cuccaro, M. L., Carracedo, Á., Cecchetti, R., Cervera-Carles, L., Charbonnier, C., Chen, H. -H., Chillotti, C., Ciccone, S., Claassen, J. A. H. R., Clark, C., Conti, E., Corma-Gómez, A., Costantini, E., Custodero, C., Daian, D., Dalmasso, M. C., Daniele, A., Dardiotis, E., Dartigues, J. -F., de Deyn, P. P., de Paiva Lopes, K., de Witte, L. D., Debette, S., Deckert, J., del Ser, T., Denning, N., Destefano, A., Dichgans, M., Diehl-Schmid, J., Diez-Fairen, M., Rossi, P. D., Djurovic, S., Duron, E., Düzel, E., Dufouil, C., Eiriksdottir, G., Engelborghs, S., Escott-Price, V., Espinosa, A., Ewers, M., Faber, K. M., Fabrizio, T., Nielsen, S. F., Fardo, D. W., Farotti, L., Fenoglio, C., Fernández-Fuertes, M., Ferrari, R., Ferreira, C. B., Ferri, E., Fin, B., Fischer, P., Fladby, T., Fließbach, K., Fongang, B., Fornage, M., Fortea, J., Foroud, T. M., Fostinelli, S., Fox, N. C., Franco-Macías, E., Bullido, M. J., Frank-García, A., Froelich, L., Fulton-Howard, B., Galimberti, D., García-Alberca, J. M., García-González, P., Garcia-Madrona, S., Garcia-Ribas, G., Ghidoni, R., Giegling, I., Giorgio, G., Goate, A. M., Goldhardt, O., Gomez-Fonseca, D., González-Pérez, A., Graff, C., Grande, G., Green, E., Grimmer, T., Grünblatt, E., Grunin, M., Gudnason, V., Guetta-Baranes, T., Haapasalo, A., Hadjigeorgiou, G., Haines, J. L., Hamilton-Nelson, K. L., Hampel, H., Hanon, O., Hardy, J., Hartmann, A. M., Hausner, L., Harwood, J., Heilmann-Heimbach, S., Helisalmi, S., Heneka, M. T., Hernández, I., Herrmann, M. J., Hoffmann, P., Holmes, C., Holstege, H., Vilas, R. H., Hulsman, M., Humphrey, J., Biessels, G. J., Jian, X., Johansson, C., Jun, G. R., Kastumata, Y., Kauwe, J., Kehoe, P. G., Kilander, L., Ståhlbom, A. K., Kivipelto, M., Koivisto, A., Kornhuber, J., Kosmidis, M. H., Kukull, W. A., Kuksa, P. P., Kunkle, B. W., Kuzma, A. B., Lage, C., Laukka, E. 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Publikováno v: EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Nature Genetics, 54(4), 412-436. Nature Publishing Group
Nature Genetics, 54(4)
Nature genetics, 54(4), 412-436. Nature Publishing Group
Nature Genetics, 54, 4, pp. 412-436
Nature Genetics
Nature Genetics, 54, 412-436
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSIC
EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Nature genetics
2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature genetics 54(4), 412-436 (2022). doi:10.1038/s41588-022-01024-z
Bellenguez, C, Küçükali, F, Jansen, I E, Kleineidam, L, Moreno-Grau, S, Amin, N, Naj, A C, Campos-Martin, R, Grenier-Boley, B, Andrade, V, Holmans, P A, Boland, A, Damotte, V, van der Lee, S J, Costa, M R, Kuulasmaa, T, Yang, Q, de Rojas, I, Bis, J C, Yaqub, A, Prokic, I, Chapuis, J, Ahmad, S, Giedraitis, V, Aarsland, D, Garcia-Gonzalez, P, Abdelnour, C, Alarcón-Martín, E, Alcolea, D, Alegret, M, Alvarez, I, Álvarez, V, Armstrong, N J, Tsolaki, A, Antúnez, C, Appollonio, I, Arcaro, M, Archetti, S, Pastor, A A, Arosio, B, Athanasiu, L, Bailly, H, Banaj, N, Baquero, M, Barral, S, Beiser, A, Nielsen, S F, Nordestgaard, B G, Sáez, M E, Frikke-Schmidt, R, EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z

25 páginas, 6 figuras, 2 tablas
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We perfor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be61a02e6ef8a704478fd3f819f507d
https://doi.org/10.1038/s41588-022-01024-z

NIAGADS Alzheimer’s Genomics Database: version GRCh38

Autor: Emily Greenfest‐Allen, Pavel P. Kuksa, Amanda B Kuzma, Otto Valladares, Wan‐Ping Lee, Nicholas R. Wheeler, William S. Bush, Yuk Yee Leung, Christian J Stoeckert, Li‐San Wang

Publikováno v: Alzheimer's & Dementia. 18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::051114606570d2bbc06fc1a123f54e19
https://doi.org/10.1002/alz.064622

HiPR: High-throughput probabilistic RNA structure inference

Autor: Yuk Yee Leung, Sampath Kannan, Pavel P. Kuksa, Brian D. Gregory, Li-San Wang, Fan Li

Publikováno v: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1539-1547 (2020)

Graphical abstract
Recent high-throughput structure-sensitive genome-wide sequencing-based assays have enabled large-scale studies of RNA structure, and robust transcriptome-wide computational prediction of individual RNA structures across RNA c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::652fffe89392124e98cb3ee3c6cb99d5
http://europepmc.org/articles/PMC7327253