Iduronate-2-sulfatase transport vehicle rescues behavioral and skeletal phenotypes in a mouse model of Hunter syndrome

Autor: Annie Arguello, René Meisner, Elliot R. Thomsen, Hoang N. Nguyen, Ritesh Ravi, Jeffrey Simms, Iris Lo, Jessica Speckart, Julia Holtzman, Thomas M. Gill, Darren Chan, Yuhsiang Cheng, Chi-Lu Chiu, Jason C. Dugas, Meng Fang, Isabel A. Lopez, Hilda Solanoy, Buyankhishig Tsogtbaatar, Yuda Zhu, Akhil Bhalla, Kirk R. Henne, Anastasia G. Henry, Anthony Delucchi, Simona Costanzo, Jeffrey M. Harris, Dolores Diaz, Kimberly Scearce-Levie, Pascal E. Sanchez

Publikováno v: JCI Insight, Vol 6, Iss 19 (2021)

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder caused by deficiency of the iduronate-2-sulfatase (IDS) enzyme, resulting in cellular accumulation of glycosaminoglycans (GAGs) throughout the body. Treatment of MPS II remains a

Externí odkaz: https://doaj.org/article/7257efca6a4647a28c441e395328432c

Human neocortical expansion involves glutamatergic neuron diversification

Autor: Tim S. Heistek, Thomas Braun, Natalia A. Goriounova, Michael Tieu, Lindsay Ng, Michael Hawrylycz, Kris Bickley, Anton Arkhipov, Colin Farrell, Trangthanh Pham, Alexandra Glandon, Daniel Park, Gábor Molnár, Herman Tung, Allan R. Jones, Lisa Keene, Gáspár Oláh, Thomas Chartrand, Amy Torkelson, Jae Geun Yoon, Rachel A. Dalley, Aaron Szafer, Nick Dee, Brian E. Kalmbach, Eliza Barkan, Allison Beller, Krissy Brouner, Andrew L. Ko, Alex M. Henry, Viktor Szemenyei, Julie Nyhus, Staci A. Sorensen, Samuel Dingman Lee, Norbert Mihut, Amy Bernard, Lisa Kim, Anatoly Buchin, Melissa Gorham, Lucas T. Graybuck, Lydia Potekhina, Katelyn Ward, Caitlin S. Latimer, Aaron Oldre, Gabe J. Murphy, Boaz P. Levi, Trygve E. Bakken, René Wilbers, Jonathan T. Ting, Kimberly A. Smith, Amanda Gary, Songlin Ding, Alice Mukora, Matthew Kroll, Anoop P. Patel, Wayne Wakeman, Hongkui Zeng, Nadezhda Dotson, Rusty Mann, Victoria Omstead, Leona Mezei, Desiree A. Marshall, Shea Ransford, Lydia Ng, Sara Kebede, Gábor Tamás, Jeffrey G. Ojemann, Stephanie Mok, Nathan Hansen, Christina A. Pom, Brian Lee, Jim Berg, Ramkumar Rajanbabu, John W. Phillips, Philip R. Nicovich, Matthew Mallory, Richard G. Ellenbogen, Rachel Enstrom, Luke Esposito, Tim Jarsky, Di Jon Hill, Idan Segev, Darren Bertagnolli, Agata Budzillo, Sander Idema, Daniel L. Silbergeld, Costas A. Anastassiou, Chris Hill, Michelle Maxwell, Mean Hwan Kim, Charles Cobbs, Delissa McMillen, Bosiljka Tasic, Olivia Fong, Medea McGraw, Hong Gu, Kirsten Crichton, David Reid, Kristen Hadley, Lauren Alfiler, Manuel Ferreira, Elliot R. Thomsen, Kiet Ngo, Josef Sulc, Augustin Ruiz, Katherine Baker, Zizhen Yao, Erica J. Melief, Femke Waleboer, Hanchuan Peng, Grace Williams, Rebecca D. Hodge, Kyla Berry, Katherine E. Link, David Sandman, Tsega Desta, Christine Rimorin, Jeff Goldy, Ryder P. Gwinn, Djai B. Heyer, Changkyu Lee, Jeremy A. Miller, Nathan W. Gouwens, Pál Barzó, Attila Ozsvár, Huibert D. Mansvelder, Sergey L. Gratiy, Rafael Yuste, David Feng, Jessica Trinh, Clare Gamlin, Tamara Casper, C. Dirk Keene, Susan M. Sunkin, Tom Egdorf, Philip C. De Witt Hamer, Rebecca de Frates, Peter Chong, Szabina Furdan, Patrick R. Hof, Jasmine Bomben, Christiaan P. J. de Kock, Eline J. Mertens, Ed S. Lein, Anna A. Galakhova, Florence D’Orazi, Christof Koch, Madie Hupp

Publikováno v: Berg, J, Sorensen, S A, Ting, J T, Miller, J A, Chartrand, T, Buchin, A, Bakken, T E, Budzillo, A, Dee, N, Ding, S L, Gouwens, N W, Hodge, R D, Kalmbach, B, Lee, C, Lee, B R, Alfiler, L, Baker, K, Barkan, E, Beller, A, Berry, K, Bertagnolli, D, Bickley, K, Bomben, J, Braun, T, Brouner, K, Casper, T, Chong, P, Crichton, K, Dalley, R, de Frates, R, Desta, T, Lee, S D, D’Orazi, F, Dotson, N, Egdorf, T, Enstrom, R, Farrell, C, Feng, D, Fong, O, Furdan, S, Galakhova, A A, Gamlin, C, Gary, A, Glandon, A, Goldy, J, Gorham, M, Goriounova, N A, Gratiy, S, Graybuck, L, Gu, H, Hadley, K, Hansen, N, Heistek, T S, Henry, A M, Heyer, D B, Hill, D J, Hill, C, Hupp, M, Jarsky, T, Kebede, S, Keene, L, Kim, L, Kim, M H, Kroll, M, Latimer, C, Levi, B P, Link, K E, Mallory, M, Mann, R, Marshall, D, Maxwell, M, McGraw, M, McMillen, D, Melief, E, Mertens, E J, Mezei, L, Mihut, N, Mok, S, Molnar, G, Mukora, A, Ng, L, Ngo, K, Nicovich, P R, Nyhus, J, Olah, G, Oldre, A, Omstead, V, Ozsvar, A, Park, D, Peng, H, Pham, T, Pom, C A, Potekhina, L, Rajanbabu, R, Ransford, S, Reid, D, Rimorin, C, Ruiz, A, Sandman, D, Sulc, J, Sunkin, S M, Szafer, A, Szemenyei, V, Thomsen, E R, Tieu, M, Torkelson, A, Trinh, J, Tung, H, Wakeman, W, Waleboer, F, Ward, K, Wilbers, R, Williams, G, Yao, Z, Yoon, J G, Anastassiou, C, Arkhipov, A, Barzo, P, Bernard, A, Cobbs, C, de Witt Hamer, P C, Ellenbogen, R G, Esposito, L, Ferreira, M, Gwinn, R P, Hawrylycz, M J, Hof, P R, Idema, S, Jones, A R, Keene, C D, Ko, A L, Murphy, G J, Ng, L, Ojemann, J G, Patel, A P, Phillips, J W, Silbergeld, D L, Smith, K, Tasic, B, Yuste, R, Segev, I, de Kock, C P J, Mansvelder, H D, Tamas, G, Zeng, H, Koch, C & Lein, E S 2021, ' Human neocortical expansion involves glutamatergic neuron diversification ', Nature, vol. 598, no. 7879, pp. 151-158 . https://doi.org/10.1038/s41586-021-03813-8
Nature, 598(7879), 151-158. Nature Publishing Group
Nature
Nature, Vol. 598, No. 7879
Berg, J, Sorensen, S A, Ting, J T, Miller, J A, Chartrand, T, Buchin, A, Bakken, T E, Budzillo, A, Dee, N, Ding, S-L, Gouwens, N W, Hodge, R D, Kalmbach, B, Lee, C, Lee, B R, Alfiler, L, Baker, K, Barkan, E, Beller, A, Berry, K, Bertagnolli, D, Bickley, K, Bomben, J, Braun, T, Brouner, K, Casper, T, Chong, P, Crichton, K, Dalley, R, de Frates, R, Desta, T, Lee, S D, D’Orazi, F, Dotson, N, Egdorf, T, Enstrom, R, Farrell, C, Feng, D, Fong, O, Furdan, S, Galakhova, A A, Gamlin, C, Gary, A, Glandon, A, Goldy, J, Gorham, M, Goriounova, N A, Gratiy, S, Graybuck, L, Gu, H, Hadley, K, Hansen, N, Heistek, T S, Henry, A M, Heyer, D B, Hill, D, Hill, C, Hupp, M, Jarsky, T, Kebede, S, Keene, L, Kim, L, Kim, M-H, Kroll, M, Latimer, C, Levi, B P, Link, K E, Mallory, M, Mann, R, Marshall, D, Maxwell, M, McGraw, M, McMillen, D, Melief, E, Mertens, E J, Mezei, L, Mihut, N, Mok, S, Molnar, G, Mukora, A, Ng, L, Ngo, K, Nicovich, P R, Nyhus, J, Olah, G, Oldre, A, Omstead, V, Ozsvar, A, Park, D, Peng, H, Pham, T, Pom, C A, Potekhina, L, Rajanbabu, R, Ransford, S, Reid, D, Rimorin, C, Ruiz, A, Sandman, D, Sulc, J, Sunkin, S M, Szafer, A, Szemenyei, V, Thomsen, E R, Tieu, M, Torkelson, A, Trinh, J, Tung, H, Wakeman, W, Waleboer, F, Ward, K, Wilbers, R, Williams, G, Yao, Z, Yoon, J-G, Anastassiou, C, Arkhipov, A, Barzo, P, Bernard, A, Cobbs, C, de Witt Hamer, P C, Ellenbogen, R G, Esposito, L, Ferreira, M, Gwinn, R P, Hawrylycz, M J, Hof, P R, Idema, S, Jones, A R, Keene, C D, Ko, A L, Murphy, G J, Ng, L, Ojemann, J G, Patel, A P, Phillips, J W, Silbergeld, D L, Smith, K, Tasic, B, Yuste, R, Segev, I, de Kock, C P J, Mansvelder, H D, Tamas, G, Zeng, H, Koch, C & Lein, E S 2021, ' Human neocortical expansion involves glutamatergic neuron diversification ', Nature, vol. 598, no. 7879, pp. 151-158 . https://doi.org/10.1038/s41586-021-03813-8

The neocortex is disproportionately expanded in human compared with mouse1,2, both in its total volume relative to subcortical structures and in the proportion occupied by supragranular layers composed of neurons that selectively make connections wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c41f5015a297892f279cb761e2d9f21
https://hdl.handle.net/1871.1/df908a46-b182-41b3-b732-326dddbab23b

ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, corrects heparan sulfate accumulation, lysosomal lipid storage and inflammation in MPS IIIA mouse brain

Autor: Shababa T. Masoud, Mohammad Jafarnejad, Hoang Nguyen, Buyankhishig Tsogtbaatar, Yashas Rajendra, Alexander Seay, Elliot R. Thomsen, Kensuke Yamanokuchi, Annie Arguello, Meng Fang, Cathal S. Mahon, Pascal Sanchez, Dolo Diaz, Anna Bakardjiev, Kirk Henne

Publikováno v: Molecular Genetics and Metabolism. 138:107223

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf95d87959ec98f4011eeacf9ee0962a
https://doi.org/10.1016/j.ymgme.2022.107223

Fibrillar Aβ causes profound microglial metabolic perturbations in a novel APP knock-in mouse model

Autor: Dylan Garceau, Jennifer D. Whitesell, Julie A. Harris, Hilda Solanoy, Hoang Nguyen, Gilbert Di Paolo, Connie W.Y. Ha, Robert G. Thorne, Meredith E. K. Calvert, Joseph W. Lewcock, Karin Lin, Roni Chau, Thomas Sandmann, Sarah L. DeVos, Steve Lianoglou, Michael Sasner, Michelle E. Pizzo, Richard H. Liang, Jason C. Dugas, Jung H. Suh, Elliot R. Thomsen, Timothy K. Earr, Chia-Ching Lin, Kimberly Scearce-Levie, Dan Xia, Sonnet S. Davis, Shababa T. Masoud, Pascal E. Sanchez, Ernie Yulyaningsih

Microglial dysfunction is believed to play a pathogenic role in Alzheimer’s disease (AD). Here, we characterize the amyloid-β related pathology and microglial responses in an engineered APP knock-in mouse model of familial AD. This model recapitul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::740621cd30fb1a8feec1aa4ace66f9b6
https://doi.org/10.1101/2021.01.19.426731

Target cell-specific synaptic dynamics of excitatory to inhibitory neuron connections in supragranular layers of human neocortex

Autor: Mean-Hwan Kim, Cristina Radaelli, Elliot R. Thomsen, Deja Machen, Tom Chartrand, Nikolas L. Jorstad, Joseph T. Mahoney, Michael J. Taormina, Brian Long, Katherine Baker, Luke Campagnola, Tamara Casper, Michael Clark, Nick Dee, Florence D’Orazi, Clare Gamlin, Brian Kalmbach, Sara Kebede, Brian R. Lee, Lindsay Ng, Jessica Trinh, Charles Cobbs, Ryder P. Gwinn, C. Dirk Keene, Andrew L. Ko, Jeffrey G. Ojemann, Daniel L. Silbergeld, Staci A. Sorensen, Jim Berg, Kimberly Smith, Philip R. Nicovich, Tim Jarsky, Gabe Murphy, Hongkui Zeng, Jonathan T. Ting, Boaz P. Levi, Ed S. Lein

Rodent studies have demonstrated that synaptic dynamics from excitatory to inhibitory neuron types are often dependent on the target cell type. However, these target cell-specific properties have not been well investigated in human cortex, where ther

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a93983adff005195a92820ddab43987d
https://doi.org/10.1101/2020.10.16.343343