Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models

Autor: Luis A. Williams, David J. Gerber, Amy Elder, Wei Chou Tseng, Valeriya Baru, Nathaniel Delaney-Busch, Christina Ambrosi, Gauri Mahimkar, Vaibhav Joshi, Himali Shah, Karthiayani Harikrishnan, Hansini Upadhyay, Sakthi H. Rajendran, Aishwarya Dhandapani, Joshua Meier, Steven J. Ryan, Caitlin Lewarch, Lauren Black, Julie Douville, Stefania Cinquino, Helen Legakis, Karsten Nalbach, Christian Behrends, Ai Sato, Lorenzo Galluzzi, Timothy W. Yu, Duncan Brown, Sudhir Agrawal, David Margulies, Alan Kopin, Graham T. Dempsey

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 189-203 (2022)

Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9;

Externí odkaz: https://doaj.org/article/555fd4156baf47509e8e7211947eb238

Developing antisense oligonucleotides for a

Autor: Luis A, Williams, David J, Gerber, Amy, Elder, Wei Chou, Tseng, Valeriya, Baru, Nathaniel, Delaney-Busch, Christina, Ambrosi, Gauri, Mahimkar, Vaibhav, Joshi, Himali, Shah, Karthiayani, Harikrishnan, Hansini, Upadhyay, Sakthi H, Rajendran, Aishwarya, Dhandapani, Joshua, Meier, Steven J, Ryan, Caitlin, Lewarch, Lauren, Black, Julie, Douville, Stefania, Cinquino, Helen, Legakis, Karsten, Nalbach, Christian, Behrends, Ai, Sato, Lorenzo, Galluzzi, Timothy W, Yu, Duncan, Brown, Sudhir, Agrawal, David, Margulies, Alan, Kopin, Graham T, Dempsey

Publikováno v: Molecular therapy. Nucleic acids. 29

Mutations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f46faf63abd1f4135c97b4442e9dca4
https://pubmed.ncbi.nlm.nih.gov/35860385

PICALM Rescues Endocytic Defects Caused by the Alzheimer’s Disease Risk Factor APOE4

Autor: Julia Maeve Bonner, Susan Lindquist, Leyla Anne Akay, M. Inmaculada Barrasa, Julie S. Valastyan, Agnese Graziosi, Valeriya Baru, Aftabul Haque, Yelena Freyzon, Grzegorz Sienski, William R. Hesse, Li-Huei Tsai, Priyanka Narayan, Yuan-Ta Lin, Jinsoo Seo, Blerta Milo, Dirk Landgraf

Publikováno v: Cell Reports, Vol 33, Iss 1, Pp 108224-(2020)
Cell Rep
Elsevier

Summary: The ε4 allele of apolipoprotein E (APOE4) is a genetic risk factor for many diseases, including late-onset Alzheimer’s disease (AD). We investigate the cellular consequences of APOE4 in human iPSC-derived astrocytes, observing an endocyti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33720e98ac0cff7e832c8e35452f808f
http://www.sciencedirect.com/science/article/pii/S2211124720312134

Probing Synaptic Signaling with Optogenetic Stimulation and Genetically Encoded Calcium Reporters

Autor: Graham T. Dempsey, Pin W. Liu, Hansini Upadhyay, Gabriel B. Borja, Christopher A. Werley, Valeriya Baru, Himali Shroff, Luis A. Williams, Yung-Chih Cheng, Owen B. McManus

Publikováno v: Methods in Molecular Biology ISBN: 9781071608296

Optogenetics provides a powerful approach for investigating neuronal electrophysiology at the scale required for drug discovery applications. Probing synaptic function with high throughput using optogenetics requires robust tools that enable both pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dfb35627916d5e37a95faa9e16f9544b
https://doi.org/10.1007/978-1-0716-0830-2_8

FKBP12 contributes to α-synuclein toxicity by regulating the calcineurin-dependent phosphoproteome

Autor: Gabriela Caraveo, Martin Soste, Susan Lindquist, Valeriya Baru, Valentina Cappelleti, Saranna Fanning, Luke Whitesell, Chee Yeun Chung, Paola Picotti, Yanmei Huang, Damian B. van Rossum, Sofia Zaichick

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 114 (52)

Significance Calcineurin is an essential Ca2+-dependent phosphatase in all eukaryotes. Whether calcineurin can be endogenously regulated by factors other than Ca2+ and calmodulin is not known. Using a model of Parkinson's Disease (PD) as a surrogate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::736b1a33474e7145c686992fe722e441
https://pubmed.ncbi.nlm.nih.gov/29229832