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Cell|January 22, 2021
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, et al.Human Molecular Genetics|March 29, 2012
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisJulien Couthouis, Michael P Hart, Renske Erion, et al.Nature Communications|September 28, 2023
Defining the condensate landscape of fusion oncoproteinsSwarnendu Tripathi, Hazheen K Shirnekhi, Scott D Gorman, et al.Cell Systems|April 24, 2020
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian BrainReza Pourhaghighi, Peter E A Ash, Sadhna Phanse, et al.Cell Reports|January 16, 2025
Opposing roles of p38α-mediated phosphorylation and PRMT1-mediated arginine methylation in driving TDP-43 proteinopathyMari Aikio, Hana M Odeh, Heike J Wobst, et al.Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.Science (New York, N.Y.)|August 13, 2016
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcriptsNicholas J Kramer, Yari Carlomagno, Yong-Jie Zhang, et al.Nature|March 5, 2013
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSHong Joo Kim, Nam Chul Kim, Yong-Dong Wang, et al.Proceedings of the National Academy of Sciences of the United States of America|November 9, 2011
A yeast functional screen predicts new candidate ALS disease genesJulien Couthouis, Michael P Hart, James Shorter, et al.Journal of Medical Genetics|April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesChizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.Pageof 23