Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis

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

Publikováno v: Cell Reports, Vol 34, Iss 2, Pp 108615- (2021)

Summary: 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 PSEN1 reduce Notch signaling and alter neurogenesis. Expression d

Externí odkaz: https://doaj.org/article/7f979cc3b908483da5f10f85ac910f06

A reference human induced pluripotent stem cell line for large-scale collaborative studies

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

Publikováno v: Cell stem cell 29(12), 1685-1702.e22 (2022). doi:10.1016/j.stem.2022.11.004
Cell stem cell
Cell Stem Cell, 29(12), 1685-1702.e22. Cell Press
Pantazis, C B, Yang, A, Lara, E, McDonough, J A, Blauwendraat, C, Peng, L, Oguro, H, Kanaujiya, J, Zou, J, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, M A, Vitale, D, Ballard, S, Qi, Y A, Ramos, D M, Anderson, K M, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, M P, Aggarwal, S, Rosen, L U, Kirwan, P, Pisupati, V, Coon, S L, Scholz, S W, Priebe, T, Öttl, M, Dong, J, Meijer, M, Janssen, L J M, Lourenco, V S, van der Kant, R, Crusius, D, Paquet, D, Raulin, A C, Bu, G, Held, A, Wainger, B J, Gabriele, R M C, Casey, J M, Wray, S, Abu-Bonsrah, D, Parish, C L, Beccari, M S, Cleveland, D W, Li, E, Rose, I V L, Kampmann, M, Calatayud Aristoy, C, Verstreken, P, Heinrich, L, Chen, M Y, Schüle, B, Dou, D, Holzbaur, E L F, Zanellati, M C, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, Z S, Matia, M, Van Lent, J, Timmerman, V, Conklin, B R, Johnson Chase, K, Zhang, K, Funes, S, Bosco, D A, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, G, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, J C, Skarnes, W C, Cookson, M R, Ward, M E & Merkle, F T 2022, ' A reference human induced pluripotent stem cell line for large-scale collaborative studies ', Cell Stem Cell, vol. 29, no. 12, pp. 1685-1702.e22 . https://doi.org/10.1016/j.stem.2022.11.004
Pantazis, C B, Yang, A, Lara, E, McDonough, J A, Blauwendraat, C, Peng, L, Oguro, H, Kanaujiya, J, Zou, J, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, M A, Vitale, D, Ballard, S, Qi, Y A, Ramos, D M, Anderson, K M, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, M P, Aggarwal, S, Rosen, L U, Kirwan, P, Pisupati, V, Coon, S L, Scholz, S W, Priebe, T, Öttl, M, Dong, J, Meijer, M, Janssen, L J M, Lourenco, V S, van der Kant, R, Crusius, D, Paquet, D, Raulin, A-C, Bu, G, Held, A, Wainger, B J, Gabriele, R M C, Casey, J M, Wray, S, Abu-Bonsrah, D, Parish, C L, Beccari, M S, Cleveland, D W, Li, E, Rose, I V L, Kampmann, M, Calatayud Aristoy, C, Verstreken, P, Heinrich, L, Chen, M Y, Schüle, B, Dou, D, Holzbaur, E L F, Zanellati, M C, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, Z S, Matia, M, van Lent, J, Timmerman, V, Conklin, B R, Johnson Chase, K, Zhang, K, Funes, S, Bosco, D A, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, G, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, J C, Skarnes, W C, Cookson, M R, Ward, M E & Merkle, F T 2022, ' A reference human induced pluripotent stem cell line for large-scale collaborative studies ', Cell Stem Cell, vol. 29, no. 12, pp. 1685-1702.e22 . https://doi.org/10.1016/j.stem.2022.11.004
Cell Stem Cell, 29(12), 1685-1702.e22. Elsevier

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 group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13421d333d6a58e4ae5a7a5137ffe431
https://hdl.handle.net/1871.1/7a28e7d3-76b6-44b1-99f6-5924a18844de

A reference induced pluripotent stem cell line for large-scale collaborative studies

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

Publikováno v: bioRxiv

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 group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16be7beeb9661c1c36cbc5f9bea57195

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

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

Publikováno v: Alzheimer's & Dementia. 16

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9168afe4973e28f5f9c8d80583e63d1a
https://doi.org/10.1002/alz.039793

Wake-Promoting and EEG Spectral Effects of Modafinil After Acute or Chronic Administration in the R6/2 Mouse Model of Huntington’s Disease

Autor: Will T. Schneider, A. Jennifer Morton, Lajos Kalmar, Szilvia Vas, Jackie M. Casey

Publikováno v: Neurotherapeutics

Funder: CHDI Foundation; doi: http://dx.doi.org/10.13039/100005725
Huntington’s disease (HD) is characterised by progressive symptoms including cognitive deficits and sleep/wake disturbances reflected in an abnormal electroencephalography (EEG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b1c7f9791658202369fbaedf46465a