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New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, 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 NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, 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 KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies.
Lopes KP, Snijders GJL, Humphrey J, Allan A, Sneeboer MAM, Navarro E, Schilder BM, Vialle RA, Parks M, Missall R, van Zuiden W, Gigase FAJ, Kübler R, van Berlekom AB, Hicks EM, Bӧttcher C, Priller J, Kahn RS, de Witte LD, Raj T. Lopes KP, et al. Nat Genet. 2022 Jan;54(1):4-17. doi: 10.1038/s41588-021-00976-y. Epub 2022 Jan 6. Nat Genet. 2022. PMID: 34992268 Free PMC article.
Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing.
Humphrey J, Brophy E, Kosoy R, Zeng B, Coccia E, Mattei D, Ravi A, Efthymiou AG, Navarro E, Muller BZ, Snijders GJ, Allan A, Münch A, Kitata RB, Kleopoulos SP, Argyriou S, Shao Z, Francoeur N, Tsai CF, Gritsenko MA, Monroe ME, Paurus VL, Weitz KK, Shi T, Sebra R, Liu T, de Witte LD, Goate AM, Bennett DA, Haroutunian V, Hoffman GE, Fullard JF, Roussos P, Raj T. Humphrey J, et al. medRxiv [Preprint]. 2023 Dec 1:2023.12.01.23299073. doi: 10.1101/2023.12.01.23299073. medRxiv. 2023. PMID: 38076956 Free PMC article. Preprint.
Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson's disease.
Riboldi GM, Vialle RA, Navarro E, Udine E, de Paiva Lopes K, Humphrey J, Allan A, Parks M, Henderson B, Astudillo K, Argyrou C, Zhuang M, Sikder T, Oriol Narcis J, Kumar SD, Janssen W, Sowa A, Comi GP, Di Fonzo A, Crary JF, Frucht SJ, Raj T. Riboldi GM, et al. Mol Neurodegener. 2022 Aug 17;17(1):52. doi: 10.1186/s13024-022-00554-8. Mol Neurodegener. 2022. PMID: 35978378 Free PMC article.
Dysregulation of mitochondrial and proteolysosomal genes in Parkinson's disease myeloid cells.
Navarro E, Udine E, Lopes KP, Parks M, Riboldi G, Schilder BM, Humphrey J, Snijders GJL, Vialle RA, Zhuang M, Sikder T, Argyrou C, Allan A, Chao MJ, Farrell K, Henderson B, Simon S, Raymond D, Elango S, Ortega RA, Shanker V, Swan M, Zhu CW, Ramdhani R, Walker RH, Tse W, Sano M, Pereira AC, Ahfeldt T, Goate AM, Bressman S, Crary JF, de Witte L, Frucht S, Saunders-Pullman R, Raj T. Navarro E, et al. Nat Aging. 2021 Sep;1(9):850-863. doi: 10.1038/s43587-021-00110-x. Epub 2021 Sep 14. Nat Aging. 2021. PMID: 35005630 Free PMC article.
LRRK2 G2019S variant is associated with transcriptional changes in Parkinson's disease human myeloid cells under proinflammatory environment.
Navarro E, Efthymiou AG, Parks M, Riboldi GM, Vialle RA, Udine E, Muller BZ, Humphrey J, Allan A, Argyrou CC, Lopes KP, Münch A, Raymond D, Sachdev R, Shanker VL, Miravite J, Katsnelson V, Leaver K, Frucht S, Bressman SB, Marcora E, Saunders-Pullman R, Goate A, Raj T. Navarro E, et al. bioRxiv [Preprint]. 2024 May 31:2024.05.27.594821. doi: 10.1101/2024.05.27.594821. bioRxiv. 2024. PMID: 38854101 Free PMC article. Preprint.