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2. Microglia produce the amyloidogenic ABri peptide in familial British dementia

Author

Arber, Charles, primary, Casey, Jackie M., additional, Crawford, Samuel, additional, Rambarack, Naiomi, additional, Yaman, Umran, additional, Wiethoff, Sarah, additional, Augustin, Emma, additional, Piers, Thomas M., additional, Rostagno, Agueda, additional, Ghiso, Jorge, additional, Lewis, Patrick A., additional, Revesz, Tamas, additional, Hardy, John, additional, Pocock, Jennifer M., additional, Houlden, Henry, additional, Schott, Jonathan M., additional, Salih, Dervis A., additional, Lashley, Tammaryn, additional, and Wray, Selina, additional

Published
2023
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3. A reference human induced pluripotent stem cell line for large-scale collaborative studies

Author

Pantazis, Caroline B., primary, Yang, Andrian, additional, Lara, Erika, additional, McDonough, Justin A., additional, Blauwendraat, Cornelis, additional, Peng, Lirong, additional, Oguro, Hideyuki, additional, Kanaujiya, Jitendra, additional, Zou, Jizhong, additional, Sebesta, David, additional, Pratt, Gretchen, additional, Cross, Erin, additional, Blockwick, Jeffrey, additional, Buxton, Philip, additional, Kinner-Bibeau, Lauren, additional, Medura, Constance, additional, Tompkins, Christopher, additional, Hughes, Stephen, additional, Santiana, Marianita, additional, Faghri, Faraz, additional, Nalls, Mike A., additional, Vitale, Daniel, additional, Ballard, Shannon, additional, Qi, Yue A., additional, Ramos, Daniel M., additional, Anderson, Kailyn M., additional, Stadler, Julia, additional, Narayan, Priyanka, additional, Papademetriou, Jason, additional, Reilly, Luke, additional, Nelson, Matthew P., additional, Aggarwal, Sanya, additional, Rosen, Leah U., additional, Kirwan, Peter, additional, Pisupati, Venkat, additional, Coon, Steven L., additional, Scholz, Sonja W., additional, Priebe, Theresa, additional, Öttl, Miriam, additional, Dong, Jian, additional, Meijer, Marieke, additional, Janssen, Lara J.M., additional, Lourenco, Vanessa S., additional, van der Kant, Rik, additional, Crusius, Dennis, additional, Paquet, Dominik, additional, Raulin, Ana-Caroline, additional, Bu, Guojun, additional, Held, Aaron, additional, Wainger, Brian J., additional, Gabriele, Rebecca M.C., additional, Casey, Jackie M., additional, Wray, Selina, additional, Abu-Bonsrah, Dad, additional, Parish, Clare L., additional, Beccari, Melinda S., additional, Cleveland, Don W., additional, Li, Emmy, additional, Rose, Indigo V.L., additional, Kampmann, Martin, additional, Calatayud Aristoy, Carles, additional, Verstreken, Patrik, additional, Heinrich, Laurin, additional, Chen, Max Y., additional, Schüle, Birgitt, additional, Dou, Dan, additional, Holzbaur, Erika L.F., additional, Zanellati, Maria Clara, additional, Basundra, Richa, additional, Deshmukh, Mohanish, additional, Cohen, Sarah, additional, Khanna, Richa, additional, Raman, Malavika, additional, Nevin, Zachary S., additional, Matia, Madeline, additional, Van Lent, Jonas, additional, Timmerman, Vincent, additional, Conklin, Bruce R., additional, Johnson Chase, Katherine, additional, Zhang, Ke, additional, Funes, Salome, additional, Bosco, Daryl A., additional, Erlebach, Lena, additional, Welzer, Marc, additional, Kronenberg-Versteeg, Deborah, additional, Lyu, Guochang, additional, Arenas, Ernest, additional, Coccia, Elena, additional, Sarrafha, Lily, additional, Ahfeldt, Tim, additional, Marioni, John C., additional, Skarnes, William C., additional, Cookson, Mark R., additional, Ward, Michael E., additional, and Merkle, Florian T., additional

Published
2022
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4. A reference human induced pluripotent stem cell line for collaborative studies

Author

Pantazis, Caroline B, Yang, Andrian, Lara, Erika, McDonough, Justin A, Blauwendraat, Cornelis, Peng, Lirong, Oguro, Hideyuki, Kanaujiya, Jitendra, Zou, Jizhong, Sebesta, David, Pratt, Gretchen, Cross, Erin, Blockwick, Jeffrey, Buxton, Philip, Kinner-Bibeau, Lauren, Medura, Constance, Tompkins, Christopher, Hughes, Stephen, Santiana, Marianita, Faghri, Faraz, Nalls, Mike A, Vitale, Daniel, Ballard, Shannon, Qi, Yue A, Ramos, Daniel M, Anderson, Kailyn M, Stadler, Julia, Narayan, Priyanka, Papademetriou, Jason, Reilly, Luke, Nelson, Matthew P, Aggarwal, Sanya, Rosen, Leah U, Kirwan, Peter, Pisupati, Venkat, Coon, Steven L, Scholz, Sonja W, Priebe, Theresa, Ottl, Miriam, Dong, Jian, Meijer, Marieke, Janssen, Lara JM, Lourenco, Vanessa S, van der Kant, Rik, Crusius, Dennis, Paquet, Dominik, Raulin, Ana-Caroline, Bu, Guojun, Held, Aaron, Wainger, Brian J, Gabriele, Rebecca MC, Casey, Jackie M, Wray, Selina, Abu-Bonsrah, Dad, Parish, Clare L, Beccari, Melinda S, Cleveland, Don W, Li, Emmy, Rose, Indigo VL, Kampmann, Martin, Aristoy, Carles Calatayud, Verstreken, Patrik, Heinrich, Laurin, Chen, Max Y, Schule, Birgitt, Dou, Dan, Holzbaur, Erika LF, Zanellati, Maria Clara, Basundra, Richa, Deshmukh, Mohanish, Cohen, Sarah, Khanna, Richa, Raman, Malavika, Nevin, Zachary S, Matia, Madeline, Van Lent, Jonas, Timmerman, Vincent, Conklin, Bruce R, Chase, Katherine Johnson, Zhang, Ke, Funes, Salome, Bosco, Daryl A, Erlebach, Lena, Welzer, Marc, Kronenberg-Versteeg, Deborah, Lyu, Guochang, Arenas, Ernest, Coccia, Elena, Sarrafha, Lily, Ahfeldt, Tim, Marioni, John C, Skarnes, William C, Cookson, Mark R, Ward, Michael E, and Merkle, Florian T

Subjects
Science & Technology, Cell Biology, DOPAMINE NEURONS, RISK LOCI, GENE, DISEASE, DIRECTIONAL GENOMIC HYBRIDIZATION, COPY NUMBER, DIFFERENTIATION, Cell & Tissue Engineering, HETEROGENEITY, Life Sciences & Biomedicine, A-BETA, GENERATION
Abstract

Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying development and disease, but the considerable phenotypic variation between lines makes it challenging to replicate key findings and integrate data across research groups. To address this issue, we sub-cloned candidate human iPSC lines and deeply characterized their genetic properties using whole genome sequencing, their genomic stability upon CRISPR-Cas9-based gene editing, and their phenotypic properties including differentiation to commonly used cell types. These studies identified KOLF2.1J as an all-around well-performing iPSC line. We then shared KOLF2.1J with groups around the world who tested its performance in head-to-head comparisons with their own preferred iPSC lines across a diverse range of differentiation protocols and functional assays. On the strength of these findings, we have made KOLF2.1J and its gene-edited derivative clones readily accessible to promote the standardization required for large-scale collaborative science in the stem cell field. ispartof: CELL STEM CELL vol:29 issue:12 pages:1685-+ ispartof: location:United States status: published

Published
2022

5. Kinematic Measures of Imitation Fidelity in Primary School Children

Author

Williams, Justin H. G., Casey, Jackie M., Braadbaart, Lieke, Culmer, Peter R., and Mon-Williams, Mark

Abstract

We sought to develop a method for measuring imitation accuracy objectively in primary school children. Children imitated a model drawing shapes on the same computer-tablet interface they saw used in video clips, allowing kinematics of model and observers' actions to be directly compared. Imitation accuracy was reported as a correlation reflecting the statistical dependency between values of the model's and participant's sets of actions, or as a mean absolute difference between them. Children showed consistent improvement in imitation accuracy across middle childhood. They appeared to rationalize the demands of the task by remembering duration and size of action, which enabled them to reenact speed through motor-planning mechanisms. Kinematic measures may provide a window into the cognitive mechanisms involved in imitation.

Published
2014
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6. A reference induced pluripotent stem cell line for large-scale collaborative studies

Author

Pantazis, Caroline B., primary, Yang, Andrian, additional, Lara, Erika, additional, McDonough, Justin A., additional, Blauwendraat, Cornelis, additional, Peng, Lirong, additional, Oguro, Hideyuki, additional, Kanaujiya, Jitendra, additional, Zou, Jizhong, additional, Sebesta, David, additional, Pratt, Gretchen, additional, Cross, Erin, additional, Blockwick, Jeffrey, additional, Buxton, Philip, additional, Kinner-Bibeau, Lauren, additional, Medura, Constance, additional, Tompkins, Christopher, additional, Hughes, Stephen, additional, Santiana, Marianita, additional, Faghri, Faraz, additional, Nalls, Mike A., additional, Vitale, Daniel, additional, Ballard, Shannon, additional, Qi, Yue A., additional, Ramos, Daniel M., additional, Anderson, Kailyn M., additional, Stadler, Julia, additional, Narayan, Priyanka, additional, Papademetriou, Jason, additional, Reilly, Luke, additional, Nelson, Matthew P., additional, Aggarwal, Sanya, additional, Rosen, Leah U., additional, Kirwan, Peter, additional, Pisupati, Venkat, additional, Coon, Steven L., additional, Scholz, Sonja W., additional, Priebe, Theresa, additional, Öttl, Miriam, additional, Dong, Jian, additional, Meijer, Marieke, additional, Janssen, Lara J.M., additional, Lourenco, Vanessa S., additional, van der Kant, Rik, additional, Crusius, Dennis, additional, Paquet, Dominik, additional, Raulin, Ana-Caroline, additional, Bu, Guojun, additional, Held, Aaron, additional, Wainger, Brian J., additional, Gabriele, Rebecca M.C., additional, Casey, Jackie M, additional, Wray, Selina, additional, Abu-Bonsrah, Dad, additional, Parish, Clare L., additional, Beccari, Melinda S., additional, Cleveland, Don W., additional, Li, Emmy, additional, Rose, Indigo V.L., additional, Kampmann, Martin, additional, Aristoy, Carles Calatayud, additional, Verstreken, Patrik, additional, Heinrich, Laurin, additional, Chen, Max Y., additional, Schüle, Birgitt, additional, Dou, Dan, additional, Holzbaur, Erika L.F., additional, Zanellati, Maria Clara, additional, Basundra, Richa, additional, Deshmukh, Mohanish, additional, Cohen, Sarah, additional, Khanna, Richa, additional, Raman, Malavika, additional, Nevin, Zachary S., additional, Matia, Madeline, additional, Lent, Jonas Van, additional, Timmerman, Vincent, additional, Conklin, Bruce R., additional, Chase, Katherine Johnson, additional, Zhang, Ke, additional, Funes, Salome, additional, Bosco, Daryl A., additional, Erlebach, Lena, additional, Welzer, Marc, additional, Kronenberg-Versteeg, Deborah, additional, Lyu, Guochang, additional, Arenas, Ernest, additional, Coccia, Elena, additional, Sarrafha, Lily, additional, Ahfeldt, Tim, additional, Marioni, John C., additional, Skarnes, William C., additional, Cookson, Mark R., additional, Ward, Michael E., additional, and Merkle, Florian T., additional

Published
2021
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8. Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis

Author

Arber, Charles, primary, Lovejoy, Christopher, additional, Harris, Lachlan, additional, Willumsen, Nanet, additional, Alatza, Argyro, additional, Casey, Jackie M., additional, Lines, Georgie, additional, Kerins, Caoimhe, additional, Mueller, Anika K., additional, Zetterberg, Henrik, additional, Hardy, John, additional, Ryan, Natalie S., additional, Fox, Nick C., additional, Lashley, Tammaryn, additional, and Wray, Selina, additional

Published
2021
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12. Premature neuronal differentiation in familial Alzheimer’s disease human stem cells in vitro and in postmortem brain tissue

Author

Arber, Charles, primary, Lovejoy, Christopher E.J., additional, Willumsen, Nanet, additional, Alatza, Argyro, additional, Casey, Jackie M., additional, Lines, Georgie, additional, Kerins, Caoimhe, additional, Zetterberg, Henrik, additional, Hardy, John, additional, Ryan, Natalie S., additional, Fox, Nick C., additional, Lashley, Tammaryn, additional, and Wray, Selina, additional

Published
2020
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13. Haploinsufficiency of progranulin causes cell type specific impairments in PINK1/Parkin mitophagy.

Author

Casey, Jackie M., Melandri, Daniela, Arber, Charles, Soutar, Marc, Holler, Christopher J., Kukar, Thomas, Isaacs, Adrian M, Rohrer, Jonathan D., Pocock, Jennifer M, Plun‐Favreau, Helene, and Wray, Selina

Abstract

Background: GRN mutations that result in progranulin haploinsufficiency cause frontotemporal dementia (FTD). Mitophagy, the selective autophagy of damaged mitochondria, is impaired in several neurodegenerative diseases. A number of genes linked to FTD (e.g. OPTN, SQSTM, VCP and TBK1) are also known to play a role in mitophagy. Xenophagy, the selective autophagy of non‐host pathogens, relies on some of the same proteins as mitophagy (Parkin and TBK1) and is reduced in GRN knockout mice. Progranulin has also been found to play a role in mitophagy in mouse kidney cells. We therefore hypothesised that loss of progranulin could lead to defective mitophagy in neurons, astrocytes and microglia. Methods: We investigated PINK1/Parkin mitophagy in astrocytic‐like H4 cells and neuron‐like Parkin overexpressing SHSY5Y cells (PoE‐5Ys) +/‐ siRNA against GRN. We also examined induced pluripotent stem cells (iPSCs) from four controls, three patients with FTD‐associated GRN mutations (R493X and C31fs) and a CRISPR series from the human iPSC Neurodegenerative Disease Initiative1,2,3 (iNDI) with an isogenic control, heterozygous and homozygous R493X mutation lines. The iPSCs were differentiated to cortical neurons, astrocytes and microglia. PINK1/Parkin mitophagy was induced using Antimycin A (respiratory complex III inhibitor) and oligomycin (ATP synthase inhibitor). PINK1 accumulation, levels of S65 phosphorylated ubiquitin (pUb), other mitophagy markers as well as proteins hypothesised to play a role in the mechanism were examined using western blotting and immunofluorescence (ICC). Results: Lower levels of pUb were detected in PoE‐5Ys treated with oligomycin/antimycin following GRN knockdown. There was a significant reduction in mitophagy in GRN siRNA treated H4 cells, detected by ICC and western blotting of mitophagy markers. Initial results from iPSC neurons found no significant difference in mitophagy between control and patient lines. Work is ongoing in a larger set of iPSC neurons, astrocytes and microglia. Preliminary results suggest that reducing progranulin affects mitophagy in astrocytes but has a limited effect on mitophagy in neurons. Conclusions: The results suggest that progranulin has a cell specific role in mitophagy with progranulin regulating stability and/or activity of PINK1. Current work aims to understand the mechanisms of this process and to dissect cell‐type specific contributions of progranulin to mitophagy. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Familial Alzheimer’s Disease Mutations in PSEN1Lead to Premature Human Stem Cell Neurogenesis

Author

Arber, Charles, Lovejoy, Christopher, Harris, Lachlan, Willumsen, Nanet, Alatza, Argyro, Casey, Jackie M., Lines, Georgie, Kerins, Caoimhe, Mueller, Anika K., Zetterberg, Henrik, Hardy, John, Ryan, Natalie S., Fox, Nick C., Lashley, Tammaryn, and Wray, Selina

Abstract

Mutations in presenilin 1 (PSEN1) or presenilin 2 (PSEN2), the catalytic subunit of γ-secretase, cause familial Alzheimer’s disease (fAD). We hypothesized that mutations in PSEN1reduce Notch signaling and alter neurogenesis. Expression data from developmental and adult neurogenesis show relative enrichment of Notch and γ-secretase expression in stem cells, whereas expression of APPand β-secretase is enriched in neurons. We observe premature neurogenesis in fAD iPSCs harboring PSEN1mutations using two orthogonal systems: cortical differentiation in 2D and cerebral organoid generation in 3D. This is partly driven by reduced Notch signaling. We extend these studies to adult hippocampal neurogenesis in mutation-confirmed postmortem tissue. fAD cases show mutation-specific effects and a trend toward reduced abundance of newborn neurons, supporting a premature aging phenotype. Altogether, these results support altered neurogenesis as a result of fAD mutations and suggest that neural stem cell biology is affected in aging and disease.

Published
2021
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15. Microglia produce the amyloidogenic ABri peptide in familial British dementia.

Author

Arber C, Casey JM, Crawford S, Rambarack N, Yaman U, Wiethoff S, Augustin E, Piers TM, Rostagno A, Ghiso J, Lewis PA, Revesz T, Hardy J, Pocock JM, Houlden H, Schott JM, Salih DA, Lashley T, and Wray S

Abstract

Mutations in ITM2B cause familial British, Danish, Chinese and Korean dementias. In familial British dementia (FBD) a mutation in the stop codon of the ITM2B gene (also known as BRI2 ) causes a C-terminal cleavage fragment of the ITM2B/BRI2 protein to be extended by 11 amino acids. This fragment, termed amyloid-Bri (ABri), is highly insoluble and forms extracellular plaques in the brain. ABri plaques are accompanied by tau pathology, neuronal cell death and progressive dementia, with striking parallels to the aetiology and pathogenesis of Alzheimer's disease. The molecular mechanisms underpinning FBD are ill-defined. Using patient-derived induced pluripotent stem cells, we show that expression of ITM2B/BRI2 is 34-fold higher in microglia than neurons, and 15-fold higher in microglia compared with astrocytes. This cell-specific enrichment is supported by expression data from both mouse and human brain tissue. ITM2B/BRI2 protein levels are higher in iPSC-microglia compared with neurons and astrocytes. Consequently, the ABri peptide was detected in patient iPSC-derived microglial lysates and conditioned media but was undetectable in patient-derived neurons and control microglia. Pathological examination of post-mortem tissue support ABri expression in microglia that are in proximity to pre-amyloid deposits. Finally, gene co-expression analysis supports a role for ITM2B/BRI2 in disease-associated microglial responses. These data demonstrate that microglia are the major contributors to the production of amyloid forming peptides in FBD, potentially acting as instigators of neurodegeneration. Additionally, these data also suggest ITM2B/BRI2 may be part of a microglial response to disease, motivating further investigations of its role in microglial activation. This has implications for our understanding of the role of microglia and the innate immune response in the pathogenesis of FBD and other neurodegenerative dementias including Alzheimer's disease.

Published
2023
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