Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain.

Autor: Castro, Victoria L.¹ (AUTHOR), Reyes, Joel F.¹ (AUTHOR), Reyes-Nava, Nayeli G.¹ (AUTHOR), Paz, David¹ (AUTHOR), Quintana, Anita M.¹ (AUTHOR) aquintana8@utep.edu

Publikováno v: BMC Neuroscience. 6/10/2020, Vol. 21 Issue 1, p1-17. 17p. 4 Color Photographs, 6 Graphs.

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Autor: Brown, Anna-Leigh, Wilkins, Oscar G., Keuss, Matthew J., Hill, Sarah E., Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora C. Y., Masino, Laura, Qi, Yue A., Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Shneider, Neil A., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos. A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matthew, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H., Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Lerner, Yossef, Sattler, Rita, Van Keuren-Jensen, Kendall, Rozenblatt-Rosen, Orit, Lindblad-Toh, Kerstin, Nicholson, Katharine, Gregersen, Peter, Lee, Jeong-Ho, Kokos, Sulev, Muljo, Stephen, Newcombe, Jia, Gustavsson, Emil K., Seddighi, Sahba, Reyes, Joel F., Coon, Steven L., Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth M. C., Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E.

Publikováno v: Nature, 603(7899), 131-137. Nature Publishing Group
Nature, vol 603, iss 7899
NYGC ALS Consortium 2022, ' TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A ', Nature, vol. 603, no. 7899, pp. 131-137 . https://doi.org/10.1038/s41586-022-04436-3
Nature, 603(7899), 131-+. NATURE PORTFOLIO

Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1–3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding protein TDP-434,5. Her

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a25848cce9d1ba10e3d3a48fd3e242

Additional file 1 of Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain

Autor: Castro, Victoria L., Reyes, Joel F., Reyes-Nava, Nayeli G., Paz, David, Quintana, Anita M.

Additional file 1: Figure S1. The Co60 allele is predicted to produce a premature stop codon. The predicted protein would cause an N-terminal truncation. ClustalOmega alignment of the allele encoded protein and the full length Hcfc1a is depicted.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82600c3b808fd49122a309d9bdbc7e61

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Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.

Autor: Seddighi S; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Qi YA; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Brown AL; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Wilkins OG; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.; The Francis Crick Institute, London, UK., Bereda C; Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Belair C; Laboratory of Genetics and Genomics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA., Zhang Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Prudencio M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Keuss MJ; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Khandeshi A; Laboratory of Genetics and Genomics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA., Pickles S; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Hill SE; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Hawrot J; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Ramos DM; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Yuan H; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Roberts J; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Kelmer Sacramento E; Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), Jena, Germany., Shah SI; Data Tecnica International, Washington, DC, USA., Nalls MA; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.; Data Tecnica International, Washington, DC, USA., Colon-Mercado J; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Reyes JF; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Ryan VH; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Nelson MP; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Cook C; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Li Z; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.; Data Tecnica International, Washington, DC, USA., Screven L; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Kwan JY; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Shantaraman A; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA., Ping L; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA., Koike Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Oskarsson B; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Staff N; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Duong DM; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA., Ahmed A; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Secrier M; Department of Genetics, Evolution and Environment, UCL Genetics Institute, UCL, London, UK., Ule J; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Jacobson S; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Rohrer J; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Malaspina A; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Glass JD; Department of Neurology, Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, USA., Ori A; Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), Jena, Germany., Seyfried NT; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Maragkakis M; Laboratory of Genetics and Genomics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA., Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Fratta P; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Ward ME; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Jan 23. Date of Electronic Publication: 2023 Jan 23.