An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

Autor: Jonathan Li, Ryan G. Lim, Julia A. Kaye, Victoria Dardov, Alyssa N. Coyne, Jie Wu, Pamela Milani, Andrew Cheng, Terri G. Thompson, Loren Ornelas, Aaron Frank, Miriam Adam, Maria G. Banuelos, Malcolm Casale, Veerle Cox, Renan Escalante-Chong, J. Gavin Daigle, Emilda Gomez, Lindsey Hayes, Ronald Holewenski, Susan Lei, Alex Lenail, Leandro Lima, Berhan Mandefro, Andrea Matlock, Lindsay Panther, Natasha Leanna Patel-Murray, Jacqueline Pham, Divya Ramamoorthy, Karen Sachs, Brandon Shelley, Jennifer Stocksdale, Hannah Trost, Mark Wilhelm, Vidya Venkatraman, Brook T. Wassie, Stacia Wyman, Stephanie Yang, Jennifer E. Van Eyk, Thomas E. Lloyd, Steven Finkbeiner, Ernest Fraenkel, Jeffrey D. Rothstein, Dhruv Sareen, Clive N. Svendsen, Leslie M. Thompson, Hemali Phatnani, PhD, Justin Kwan, MD, Dhruv Sareen, PhD, James R. Broach, PhD, Zachary Simmons, MD, Ximena Arcila-Londono, MD, Edward B. Lee, MD, PhD, Vivianna M. Van Deerlin, MD, PhD, Neil A. Shneider, MD, PhD, Ernest Fraenkel, PhD, Lyle W. Ostrow, MD, PhD, Frank Baas, MD, PhD, Noah Zaitlen, PhD, James D. Berry, MD, MPH, Andrea Malaspina, MD, PhD, Pietro Fratta, MD, PhD, Gregory A. Cox, PhD, Leslie M. Thompson, PhD, Steve Finkbeiner, MD, PhD, Efthimios Dardiotis, MD, PhD, Timothy M. Miller, MD, PhD, Siddharthan Chandran, PhD, Suvankar Pal, MD, Eran Hornstein, MD, PhD, Daniel J. MacGowan, MD, Terry Heiman-Patterson, MD, Molly G. Hammell, PhD, Nikolaos.A. Patsopoulos, MD, PhD, Oleg Butovsky, PhD, Joshua Dubnau, PhD, Avindra Nath, MD, Robert Bowser, PhD, Matt Harms, MD, Mary Poss, DVM, PhD, Jennifer Phillips-Cremins, PhD, John Crary, MD, PhD, Nazem Atassi, MD, Dale J. Lange, MD, Darius J. Adams, MD, Leonidas Stefanis, MD, PhD, Marc Gotkine, MD, Robert H. Baloh, MD. PhD, Suma Babu, MBBS, MPH, Towfique Raj, PhD, Sabrina Paganoni, MD, PhD, Ophir Shalem, PhD, Colin Smith, MD, Bin Zhang, PhD, Brent Harris, MD, PhD, Iris Broce, PhD, Vivian Drory, MD, John Ravits, MD, Corey McMillan, PhD, Vilas Menon, PhD, Lani Wu, PhD, Steven Altschuler, PhD

Publikováno v: iScience, Vol 24, Iss 11, Pp 103221- (2021)

Summary: Neurodegenerative diseases are challenging for systems biology because of the lack of reliable animal models or patient samples at early disease stages. Induced pluripotent stem cells (iPSCs) could address these challenges. We investigated D

Externí odkaz: https://doaj.org/article/b0aa201abf104ba08a6430dac01837c5

FUS affects circular RNA expression in murine embryonic stem cell-derived motor neurons

Autor: Lorenzo Errichelli, Stefano Dini Modigliani, Pietro Laneve, Alessio Colantoni, Ivano Legnini, Davide Capauto, Alessandro Rosa, Riccardo De Santis, Rebecca Scarfò, Giovanna Peruzzi, Lei Lu, Elisa Caffarelli, Neil A. Shneider, Mariangela Morlando, Irene Bozzoni

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

The RNA binding protein FUS functions in several RNA biosynthetic processes and has been linked to the pathogenesis of amyotrophic lateral sclerosis (ALS). Here the authors show that FUS controls back-splicing reactions leading to circular RNA (circR

Externí odkaz: https://doaj.org/article/1e9c2716f18a4d80882bcb92f54bc792

Mutant TDP-43 Causes Early-Stage Dose-Dependent Motor Neuron Degeneration in a TARDBP Knockin Mouse Model of ALS

Autor: Sarah Y. Ebstein, Ilona Yagudayeva, Neil A. Shneider

Publikováno v: Cell Reports, Vol 26, Iss 2, Pp 364-373.e4 (2019)

Summary: Rare mutations in TARDBP, the gene encoding TDP-43, cause amyotrophic lateral sclerosis (ALS), and TDP-43 pathology is seen in a large majority of ALS patients, suggesting a central pathogenic role of this regulatory protein. The consequence

Externí odkaz: https://doaj.org/article/732359fb0ec34456981b714035623369

Formation of RNA G-wires by G4C2 repeats associated with ALS and FTD

Autor: Krishnashish Bose, Arijit Maity, Khac Huy Ngo, J. Jeya Vandana, Neil A. Shneider, Anh Tuân Phan

Publikováno v: Biochemical and Biophysical Research Communications. 610:113-118

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::15640d2d498677d30d2453f4ae4bc869
https://doi.org/10.1016/j.bbrc.2022.03.162

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

Autor: Aarti Sharma, Alexander K. Lyashchenko, Lei Lu, Sara Ebrahimi Nasrabady, Margot Elmaleh, Monica Mendelsohn, Adriana Nemes, Juan Carlos Tapia, George Z. Mentis, Neil A. Shneider

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)

The mechanism by which FUS mutations cause familial ALS remains unclear. Here, the authors use mouse transgenic models to show that a toxic gain-of-function underlies motor neuron degeneration, and that the toxicity of mutant FUS does not depend on a

Externí odkaz: https://doaj.org/article/320664c72a834d799df983f0633c7d56