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9 results on '"Lee, Weaverly Colleen"'

1. Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Author

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, Newcombe, Jia, Gustavsson, Emil K., Seddighi, Sahba, Reyes, Joel F., Coon, Steven L., Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth M. C., Raj, Towfique, Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E., and Fratta, Pietro

Published
2024
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2. TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Author

Brown, Anna-Leigh, Wilkins, Oscar G, Keuss, Matthew J, Hill, Sarah E, Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora CY, Masino, Laura, Qi, Yue A, Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, Newcombe, Jia, Gustavsson, Emil K, Seddighi, Sahba, Reyes, Joel F, Coon, Steven L, Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth MC, Raj, Towfique, Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E, and Fratta, Pietro

Subjects
Rare Diseases, Dementia, Prevention, ALS, Brain Disorders, Neurodegenerative, Neurosciences, Acquired Cognitive Impairment, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alternative Splicing, Amyotrophic Lateral Sclerosis, Codon, Nonsense, DNA-Binding Proteins, Frontotemporal Dementia, Humans, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, TDP-43 Proteinopathies, NYGC ALS Consortium, General Science & Technology
Abstract

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. Here we show that TDP-43 depletion induces robust inclusion of a cryptic exon in UNC13A, resulting in nonsense-mediated decay and loss of UNC13A protein. Two common intronic UNC13A polymorphisms strongly associated with amyotrophic lateral sclerosis and frontotemporal dementia risk overlap with TDP-43 binding sites. These polymorphisms potentiate cryptic exon inclusion, both in cultured cells and in brains and spinal cords from patients with these conditions. Our findings, which demonstrate a genetic link between loss of nuclear TDP-43 function and disease, reveal the mechanism by which UNC13A variants exacerbate the effects of decreased TDP-43 function. They further provide a promising therapeutic target for TDP-43 proteinopathies.

Published
2022

3. Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders

Author

Crombie, Elisa M., primary, Korecki, Andrea J., additional, Cleverley, Karen, additional, Adair, Bethany A., additional, Cunningham, Thomas J., additional, Lee, Weaverly Colleen, additional, Lengyell, Tess C., additional, Maduro, Cheryl, additional, Mo, Victor, additional, Slade, Liam M., additional, Zouhair, Ines, additional, Fisher, Elizabeth M. C., additional, and Simpson, Elizabeth M., additional

Published
2024
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7. NMJ-Analyser: high-throughput morphological screening of neuromuscular junctions identifies subtle changes in mouse neuromuscular disease models

Author

Maza, Alan Mejia, primary, Jarvis, Seth, additional, Lee, Weaverly Colleen, additional, Cunningham, Thomas J., additional, Schiavo, Giampietro, additional, Secrier, Maria, additional, Fratta, Pietro, additional, Sleigh, James N., additional, Sudre, Carole H., additional, and Fisher, Elizabeth M.C., additional

Published
2020
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