Biblio

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Journal Article

Gothe F, Spegarova JStremenova, Hatton CF, Griffin H, Sargent T, Cowley SA, James W, Roppelt A, Shcherbina A, Hauck F, et al. Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency. J Allergy Clin Immunol. 2022.

Überbacher C, Obergasteiger J, Volta M, Venezia S, Müller S, Pesce I, Pizzi S, Lamonaca G, Picard A, Cattelan G, et al. Application of CRISPR/Cas9 editing and digital droplet PCR in human iPSCs to generate novel knock-in reporter lines to visualize dopaminergic neurons. Stem Cell Res. 2019;41:101656.

Dafinca R, Scaber J, Ababneh N'a, Lalic T, Weir G, Christian H, Vowles J, Douglas AGL, Fletcher-Jones A, Browne C, et al. C9orf72 Hexanucleotide Expansions are Associated with Altered ER Calcium Homeostasis and Stress Granule Formation in iPSC-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Stem Cells. 2016.

Pettingill P, Weir GA, Wei T, Wu Y, Flower G, Lalic T, Handel A, Duggal G, Chintawar S, Cheung J, et al. A causal role for TRESK loss of function in migraine mechanisms. Brain. 2019.

Zambon F, Cherubini M, Fernandes HJR, Lang C, Ryan BJ, Volpato V, Bengoa-Vergniory N, Vingill, iv S, Attar M, Booth HDE, et al. Cellular α-synuclein pathology is associated with bioenergetic dysfunction in Parkinson's iPSC-derived dopamine neurons. Hum Mol Genet. 2019.

Vaughan-Jackson A, Stodolak S, Ebrahimi KH, Browne C, Reardon PK, Pires E, Gilbert-Jaramillo J, Cowley SA, James WS. Differentiation of human induced pluripotent stem cells to authentic macrophages using a defined, serum-free, open-source medium. Stem Cell Reports. 2021;16(12):3093.

Toombs J, Panther L, Ornelas L, Liu C, Gomez E, Martín-Ibáñez R, Cox SR, Ritchie SJ, Harris SE, Taylor A, et al. Generation of twenty four induced pluripotent stem cell lines from twenty four members of the Lothian Birth Cohort 1936. Stem Cell Res. 2020;46:101851.

Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, et al. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord. 2018;33(7):1108-1118.

Okarmus J, Havelund JF, Ryding M, Schmidt SI, Bogetofte H, Heon-Roberts R, Wade-Martins R, Cowley SA, Ryan BJ, Færgeman NJ, et al. Identification of bioactive metabolites in human iPSC-derived dopaminergic neurons with PARK2 mutation: Altered mitochondrial and energy metabolism. Stem Cell Reports. 2021.

Dafinca R, Barbagallo P, Farrimond L, Candalija A, Scaber J, Ababneh N'aA, Sathyaprakash C, Vowles J, Cowley SA, Talbot K. Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD. Stem Cell Reports. 2020.

Connor-Robson N, Booth H, Martin JG, Gao B, Li K, Doig N, Vowles J, Browne C, Klinger L, Juhasz P, et al. An integrated transcriptomics and proteomics analysis reveals functional endocytic dysregulation caused by mutations in LRRK2. Neurobiol Dis. 2019.

Jin Y, Mikhailova E, Lei M, Cowley SA, Sun T, Yang X, Zhang Y, Liu K, da Silva DCatarino, Soares LCampos, et al. Integration of 3D-printed cerebral cortical tissue into an ex vivo lesioned brain slice. Nat Commun. 2023;14(1):5986.

Paolicelli RC, Sierra A, Stevens B, Tremblay M-E, Aguzzi A, Ajami B, Amit I, Audinat E, Bechmann I, Bennett M, et al. Microglia states and nomenclature: A field at its crossroads. Neuron. 2022;110(21):3458-3483.

Burman RJ, Watson LM, Smith DC, Raimondo JV, Ballo R, Scholefield J, Cowley SA, Wood MJA, Kidson SH, Greenberg LJ. Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells. PLoS One. 2021;16(2):e0247434.

Bogetofte H, Ryan BJ, Jensen P, Schmidt SI, Vergoossen DLE, Barnkob MB, Kiani LN, Chughtai U, Heon-Roberts R, Caiazza MClaudia, et al. Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson's disease GBA-N370S dopamine neurons. Cell Rep. 2023;42(3):112180.

Dodsworth BT, Hatje K, Meyer CAiko, Flynn R, Cowley SA. Rates of homology directed repair of CRISPR-Cas9 induced double strand breaks are lower in naïve compared to primed human pluripotent stem cells. Stem Cell Res. 2020;46:101852.