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

Autor: Sahba Seddighi, Yue A. Qi, Anna-Leigh Brown, Oscar G. Wilkins, Colleen Bereda, Cedric Belair, Yongjie Zhang, Mercedes Prudencio, Matthew J Keuss, Aditya Khandeshi, Sarah Pickles, Sarah E. Hill, James Hawrot, Daniel M. Ramos, Hebao Yuan, Jessica Roberts, Erika Kelmer Sacramento, Syed I. Shah, Mike A. Nalls, Jenn Colon-Mercado, Joel F. Reyes, Veronica H. Ryan, Matthew P. Nelson, Casey Cook, Ziyi Li, Laurel Screven, Justin Y Kwan, Anantharaman Shantaraman, Lingyan Ping, Yuka Koike, Björn Oskarsson, Nathan Staff, Duc M. Duong, Aisha Ahmed, Maria Secrier, Jerneg Ule, Steven Jacobson, Jonathan Rohrer, Andrea Malaspina, Jonathan D. Glass, Alessandro Ori, Nicholas T. Seyfried, Manolis Maragkakis, Leonard Petrucelli, Pietro Fratta, Michael E. Ward

Publikováno v: bioRxiv

Functional loss of TDP-43, an RNA-binding protein genetically and pathologically linked to ALS and FTD, leads to inclusion of cryptic exons in hundreds of transcripts during disease. Cryptic exons can promote degradation of affected transcripts, dele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52de4bfdb559430326ffc82718aa6b2a
https://europepmc.org/articles/PMC9900763/

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.

HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.

Autor: Calliari, Anna¹ (AUTHOR), Daughrity, Lillian M.¹ (AUTHOR), Albagli, Ellen A.¹ (AUTHOR), Castellanos Otero, Paula¹ (AUTHOR), Yue, Mei¹ (AUTHOR), Jansen-West, Karen¹ (AUTHOR), Islam, Naeyma N.¹ (AUTHOR), Caulfield, Thomas¹ (AUTHOR), Rawlinson, Bailey¹ (AUTHOR), DeTure, Michael^1,2 (AUTHOR), Cook, Casey^1,2 (AUTHOR), Graff-Radford, Neill R.³ (AUTHOR), Day, Gregory S.³ (AUTHOR), Boeve, Bradley F.⁴ (AUTHOR), Knopman, David S.⁴ (AUTHOR), Petersen, Ronald C.⁴ (AUTHOR), Josephs, Keith A.⁴ (AUTHOR), Oskarsson, Björn³ (AUTHOR), Gitler, Aaron D.⁵ (AUTHOR), Dickson, Dennis W.^1,2 (AUTHOR)

Publikováno v: Molecular Neurodegeneration. 7/27/2024, Vol. 19 Issue 1, p1-5. 5p.