Protein kinetics of superoxide dismutase‐1 in familial and sporadic amyotrophic lateral sclerosis

Autor: Cindy V. Ly, Margaret D. Ireland, Wade K. Self, James Bollinger, Jennifer Jockel‐Balsarotti, Hillary Herzog, Peggy Allred, Leah Miller, Michael Doyle, Isabel Anez‐Bruzual, Bhavesh Trikamji, Ted Hyman, Tyler Kung, Katherine Nicholson, Robert C. Bucelli, Bruce W. Patterson, Randall J. Bateman, Timothy M. Miller

Publikováno v: Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 1012-1024 (2023)

Abstract Objective Accumulation of misfolded superoxide dismutase‐1 (SOD1) is a pathological hallmark of SOD1‐related amyotrophic lateral sclerosis (ALS) and is observed in sporadic ALS where its role in pathogenesis is controversial. Understandi

Externí odkaz: https://doaj.org/article/98d42917dba74305a8348d97ae76c0a0

Evaluating the efficacy of purchased antisense oligonucleotides to reduce mouse and human tau in vivo

Autor: Pranav Vemula, Kathleen M. Schoch, Timothy M. Miller

Publikováno v: Frontiers in Molecular Neuroscience, Vol 16 (2023)

Many preclinical and clinical studies support the use of antisense oligonucleotides (ASOs) as effective therapeutic strategies. However, acquiring ASOs for research purposes may be limited by partnerships with the pharmaceutical companies. Our lab pr

Externí odkaz: https://doaj.org/article/582548f1e30b4494a6e186253b4dee9d

Targeted ASO-mediated Atp1a2 knockdown in astrocytes reduces SOD1 aggregation and accelerates disease onset in mutant SOD1 mice.

Autor: Abhirami K Iyer, Kathleen M Schoch, Anthony Verbeck, Grant Galasso, Hao Chen, Sarah Smith, Anna Oldenborg, Timothy M Miller, Celeste M Karch, Azad Bonni

Publikováno v: PLoS ONE, Vol 18, Iss 11, p e0294731 (2023)

Astrocyte-specific ion pump α2-Na+/K+-ATPase plays a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS). Here, we test the effect of Atp1a2 mRNA-specific antisense oligonucleotides (ASOs) to induce α2-Na+/K+-ATPase knockdown i

Externí odkaz: https://doaj.org/article/fa5a7e541e4d4505993eefd9b7fb29a9

Using Smartphones to Reduce Research Burden in a Neurodegenerative Population and Assessing Participant Adherence: A Randomized Clinical Trial and Two Observational Studies

Autor: Anna L Beukenhorst, Katherine M Burke, Zoe Scheier, Timothy M Miller, Sabrina Paganoni, Mackenzie Keegan, Ella Collins, Kathryn P Connaghan, Anna Tay, James Chan, James D Berry, Jukka-Pekka Onnela

Publikováno v: JMIR mHealth and uHealth, Vol 10, Iss 2, p e31877 (2022)

BackgroundSmartphone studies provide an opportunity to collect frequent data at a low burden on participants. Therefore, smartphones may enable data collection from people with progressive neurodegenerative diseases such as amyotrophic lateral sclero

Externí odkaz: https://doaj.org/article/5e945f2d77544e4488b9ba1fac90a533

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