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Page 1
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Among authors: shaw ac. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis.
Allen SP, Hall B, Woof R, Francis L, Gatto N, Shaw AC, Myszczynska M, Hemingway J, Coldicott I, Willcock A, Job L, Hughes RM, Boschian C, Bayatti N, Heath PR, Bandmann O, Mortiboys H, Ferraiuolo L, Shaw PJ. Allen SP, et al. Among authors: shaw ac, shaw pj. Brain. 2019 Dec 1;142(12):3771-3790. doi: 10.1093/brain/awz302. Brain. 2019. PMID: 31647549 Free PMC article.
Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease.
Gatto N, Dos Santos Souza C, Shaw AC, Bell SM, Myszczynska MA, Powers S, Meyer K, Castelli LM, Karyka E, Mortiboys H, Azzouz M, Hautbergue GM, Márkus NM, Shaw PJ, Ferraiuolo L. Gatto N, et al. Among authors: shaw ac, shaw pj. Aging Cell. 2021 Jan;20(1):e13281. doi: 10.1111/acel.13281. Epub 2020 Dec 13. Aging Cell. 2021. PMID: 33314575 Free PMC article.
Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.
Bauer CS, Webster CP, Shaw AC, Kok JR, Castelli LM, Lin YH, Smith EF, Illanes-Álvarez F, Higginbottom A, Shaw PJ, Azzouz M, Ferraiuolo L, Hautbergue GM, Grierson AJ, De Vos KJ. Bauer CS, et al. Among authors: shaw ac, shaw pj. Front Cell Neurosci. 2022 Dec 16;16:1061559. doi: 10.3389/fncel.2022.1061559. eCollection 2022. Front Cell Neurosci. 2022. PMID: 36619668 Free PMC article.
Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS.
Zhang S, Moll T, Rubin-Sigler J, Tu S, Li S, Yuan E, Liu M, Butt A, Harvey C, Gornall S, Alhalthli E, Shaw A, Souza CDS, Ferraiuolo L, Hornstein E, Shelkovnikova T, van Dijk CH, Timpanaro IS, Kenna KP, Zeng J, Tsao PS, Shaw PJ, Ichida JK, Cooper-Knock J, Snyder MP. Zhang S, et al. medRxiv [Preprint]. 2024 Apr 1:2024.03.30.24305115. doi: 10.1101/2024.03.30.24305115. medRxiv. 2024. PMID: 38633814 Free PMC article. Preprint.
C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons.
Marchi PM, Marrone L, Brasseur L, Coens A, Webster CP, Bousset L, Destro M, Smith EF, Walther CG, Alfred V, Marroccella R, Graves EJ, Robinson D, Shaw AC, Wan LM, Grierson AJ, Ebbens SJ, De Vos KJ, Hautbergue GM, Ferraiuolo L, Melki R, Azzouz M. Marchi PM, et al. Among authors: shaw ac. Life Sci Alliance. 2022 May 13;5(9):e202101276. doi: 10.26508/lsa.202101276. Print 2022 Sep. Life Sci Alliance. 2022. PMID: 35568435 Free PMC article.
Host-microbe multiomic profiling reveals age-dependent immune dysregulation associated with COVID-19 immunopathology.
Phan HV, Tsitsiklis A, Maguire CP, Haddad EK, Becker PM, Kim-Schulze S, Lee B, Chen J, Hoch A, Pickering H, van Zalm P, Altman MC, Augustine AD, Calfee CS, Bosinger S, Cairns CB, Eckalbar W, Guan L, Jayavelu ND, Kleinstein SH, Krammer F, Maecker HT, Ozonoff A, Peters B, Rouphael N; IMPACC Network; Montgomery RR, Reed E, Schaenman J, Steen H, Levy O, Diray-Arce J, Langelier CR. Phan HV, et al. Sci Transl Med. 2024 Apr 17;16(743):eadj5154. doi: 10.1126/scitranslmed.adj5154. Epub 2024 Apr 17. Sci Transl Med. 2024. PMID: 38630846
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.
McRonald FE, Pethick J, Santaniello F, Shand B, Tyson A, Tulloch O, Goel S, Lüchtenborg M, Borthwick GM, Turnbull C, Shaw AC, Monahan KJ, Frayling IM, Hardy S, Burn J. McRonald FE, et al. Among authors: shaw ac. Eur J Hum Genet. 2024 May;32(5):529-538. doi: 10.1038/s41431-024-01550-w. Epub 2024 Feb 15. Eur J Hum Genet. 2024. PMID: 38355963 Free PMC article.
IgM N-glycosylation correlates with COVID-19 severity and rate of complement deposition.
Haslund-Gourley BS, Woloszczuk K, Hou J, Connors J, Cusimano G, Bell M, Taramangalam B, Fourati S, Mege N, Bernui M, Altman MC, Krammer F, van Bakel H; IMPACC Network; Maecker HT, Rouphael N, Diray-Arce J, Wigdahl B, Kutzler MA, Cairns CB, Haddad EK, Comunale MA. Haslund-Gourley BS, et al. Nat Commun. 2024 Jan 9;15(1):404. doi: 10.1038/s41467-023-44211-0. Nat Commun. 2024. PMID: 38195739 Free PMC article.
142 results