Loss of TDP-43 function contributes to genomic instability in amyotrophic lateral sclerosis

Autor: Minggang Fang, Sara K. Deibler, Alissa L. Nana, Sarat C. Vatsavayai, Shahid Banday, You Zhou, Sandra Almeida, Alexandra Weiss, Robert H. Brown, William W. Seeley, Fen-Biao Gao, Michael R. Green

Publikováno v: Frontiers in Neuroscience, Vol 17 (2023)

A common pathological hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the cytoplasmic mislocalization and aggregation of the DNA/RNA-binding protein TDP-43, but how loss of nuclear TDP-43 function contributes to A

Externí odkaz: https://doaj.org/article/a1d4f64536214ceb9ccfbc547d49b842

Tuberous Sclerosis Complex is associated with a novel human tauopathy

Autor: Ji-Hye L. Hwang, Olga S. Perloff, Stephanie E. Gaus, Camila Benitez, Carolina Alquezar, Celica Q. Cosme, Alissa L. Nana, Sarat C. Vatsavayai, Eliana M. Ramos, Daniel H. Geschwind, Bruce L. Miller, Aimee W. Kao, William W. Seeley

Publikováno v: Acta Neuropathol
Acta neuropathologica, vol 145, iss 1

Tuberous sclerosis complex (TSC) is a neurogenetic disorder leading to epilepsy, developmental delay, and neurobehavioral dysfunction. The syndrome is caused by pathogenic variants in TSC1 (coding for hamartin) or TSC2 (coding for tuberin). Recently,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b2ccbd5a1be1a194149fd8dcce8994c
https://europepmc.org/articles/PMC10244026/

TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

Autor: X Rosa, Ma, Mercedes, Prudencio, Yuka, Koike, Sarat C, Vatsavayai, Garam, Kim, Fred, Harbinski, Adam, Briner, Caitlin M, Rodriguez, Caiwei, Guo, Tetsuya, Akiyama, H Broder, Schmidt, Beryl B, Cummings, David W, Wyatt, Katherine, Kurylo, Georgiana, Miller, Shila, Mekhoubad, Nathan, Sallee, Gemechu, Mekonnen, Laura, Ganser, Jack D, Rubien, Karen, Jansen-West, Casey N, Cook, Sarah, Pickles, Björn, Oskarsson, Neill R, Graff-Radford, Bradley F, Boeve, David S, Knopman, Ronald C, Petersen, Dennis W, Dickson, James, Shorter, Sua, Myong, Eric M, Green, William W, Seeley, Leonard, Petrucelli, Aaron D, Gitler

Publikováno v: Nature, vol 603, iss 7899

A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-43 from the nucleus of neurons in the brain and spinal cord1. A major

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::821110b3bc35110fc73e4b0933142d1d
https://escholarship.org/uc/item/1062r1nd

C9orf72-specific phenomena associated with frontotemporal dementia and gastrointestinal symptoms in the absence of TDP-43 aggregation

Autor: Ji-Hye L. Hwang, Paul J. Sampognaro, Sarat C. Vatsavayai, Celica Cosme, Amber Nolan, Mary G. De May, Eric J. Huang, William W. Seeley

Publikováno v: Acta Neuropathol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63cb3ca7ad0b3f5078ff40074ce2e36c
https://europepmc.org/articles/PMC6858587/

Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106

Autor: Bruce L. Miller, Amy A. Tang, Akiko Hata, Sarat C. Vatsavayai, Brian L. Black, John Von Dollen, Eric J. Huang, William W. Seeley, Risa Kashima, Barbara Celona, Nevan J. Krogan, Jeffrey R. Johnson

Publikováno v: eLife, Vol 6 (2017)
Celona, B; Von Dollen, J; Vatsavayai, SC; Kashima, R; Johnson, JR; Tang, AA; et al.(2017). Suppression of c9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106. eLife, 6. doi: 10.7554/eLife.19032. UCSF: Retrieved from: http://www.escholarship.org/uc/item/8gn112x1

Expanded GGGGCC repeats in the first intron of the C9orf72 gene represent the most common cause of familial amyotrophic lateral sclerosis (ALS), but the mechanisms underlying repeat-induced disease remain incompletely resolved. One proposed gain-of-f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b2a2d9285f9e80cf6f51f12147aa55
https://escholarship.org/uc/item/8gn112x1