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C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9.
Vahsen BF, Nalluru S, Morgan GR, Farrimond L, Carroll E, Xu Y, Cramb KML, Amein B, Scaber J, Katsikoudi A, Candalija A, Carcolé M, Dafinca R, Isaacs AM, Wade-Martins R, Gray E, Turner MR, Cowley SA, Talbot K. Vahsen BF, et al. Among authors: scaber j. Nat Commun. 2023 Sep 22;14(1):5898. doi: 10.1038/s41467-023-41603-0. Nat Commun. 2023. PMID: 37736756 Free PMC article.
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Dafinca R, Scaber J, Ababneh N, Lalic T, Weir G, Christian H, Vowles J, Douglas AG, Fletcher-Jones A, Browne C, Nakanishi M, Turner MR, Wade-Martins R, Cowley SA, Talbot K. Dafinca R, et al. Among authors: scaber j. Stem Cells. 2016 Aug;34(8):2063-78. doi: 10.1002/stem.2388. Epub 2016 May 4. Stem Cells. 2016. PMID: 27097283 Free PMC article.
Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.
Dafinca R, Barbagallo P, Farrimond L, Candalija A, Scaber J, Ababneh NA, Sathyaprakash C, Vowles J, Cowley SA, Talbot K. Dafinca R, et al. Among authors: scaber j. Stem Cell Reports. 2020 May 12;14(5):892-908. doi: 10.1016/j.stemcr.2020.03.023. Epub 2020 Apr 23. Stem Cell Reports. 2020. PMID: 32330447 Free PMC article.
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Ababneh NA, Scaber J, Flynn R, Douglas A, Barbagallo P, Candalija A, Turner MR, Sims D, Dafinca R, Cowley SA, Talbot K. Ababneh NA, et al. Among authors: scaber j. Hum Mol Genet. 2020 Aug 3;29(13):2200-2217. doi: 10.1093/hmg/ddaa106. Hum Mol Genet. 2020. PMID: 32504093 Free PMC article.
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AGL, Varela MA, Sathyaprakash C, Scaber J, Barbagallo P, Vader P, Mäger I, Ezzat K, Turner MR, Ito N, Gasco S, Ohbayashi N, El Andaloussi S, Takeda S, Fukuda M, Talbot K, Wood MJA. Aoki Y, et al. Among authors: scaber j. Brain. 2017 Apr 1;140(4):887-897. doi: 10.1093/brain/awx024. Brain. 2017. PMID: 28334866
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