Effect of small molecule eRF3 degraders on premature termination codon readthrough von Baradaran-Heravi, Alireza, Balgi, Aruna D, Hosseini-Farahabadi, Sara, Choi, Kunho, Has, Cristina, Roberge, Michel

Volltext

Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough von Hosseini-Farahabadi, Sara, Baradaran-Heravi, Alireza, Zimmerman, Carla, Choi, Kunho, Flibotte, Stephane, Roberge, Michel

Volltext

Novel small molecules potentiate premature termination codon readthrough by aminoglycosides von Baradaran-Heravi, Alireza, Balgi, Aruna D, Zimmerman, Carla, Choi, Kunho, Shidmoossavee, Fahimeh S, Tan, Jason S, Bergeaud, Célia, Krause, Alexandra, Flibotte, Stéphane, Shimizu, Yoko, Anderson, Hilary J, Mouly, Vincent, Jan, Eric, Pfeifer, Tom, Jaquith, James B, Roberge, Michel

Volltext

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? von Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K, Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F

Volltext

Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues von Fam, Hok Khim, Chowdhury, Miraj K., Walton, Cheryl, Choi, Kunho, Boerkoel, Cornelius F., Hendson, Glenda

Volltext

Neurologic Phenotype of Schimke Immuno-Osseous Dysplasia and Neurodevelopmental Expression of SMARCAL1 von Deguchi, Kimiko, Clewing, Johanna M, Elizondo, Leah I, Hirano, Ryuki, Huang, Cheng, Choi, Kunho, Sloan, Emily A, Lücke, Thomas, Marwedel, Katja M, Powell, Ralph D, Santa Cruz, Karen, Willaime-Morawek, Sandrine, Inoue, Ken, Lou, Shu, Northrop, Jennifer L, Kanemura, Yonehiro, van der Kooy, Derek, Okano, Hideyuki, Armstrong, Dawna L, Boerkoel, Cornelius F

Volltext

Wls provides a new compartmental view of the rhombic lip in mouse cerebellar development von Yeung, Joanna, Ha, Thomas J, Swanson, Douglas J, Choi, Kunho, Tong, Yiai, Goldowitz, Dan

Volltext

Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903 von Baradaran-Heravi, Alireza, Bauer, Claudia C., Pickles, Isabelle B., Hosseini-Farahabadi, Sara, Balgi, Aruna D., Choi, Kunho, Linley, Deborah M., Beech, David J., Roberge, Michel, Bon, Robin S.

Volltext

Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria von Fam, Hok Khim, Choi, Kunho, Fougner, Lauren, Lim, Chinten James, Boerkoel, Cornelius F.

Volltext

Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity von Baradaran-Heravi, Alireza, Niesser, Jürgen, Balgi, Aruna D., Choi, Kunho, Zimmerman, Carla, South, Andrew P., Anderson, Hilary J., Strynadka, Natalie C., Bally, Marcel B., Roberge, Michel

Volltext

RETRACTED: Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity von Baradaran-Heravi, Alireza, Niesser, Jürgen, Balgi, Aruna D., Choi, Kunho, Zimmerman, Carla, South, Andrew P., Anderson, Hilary J., Strynadka, Natalie C., Bally, Marcel B., Roberge, Michel

Volltext

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? von Hirano, Ryuki, Interthal, Heidrun, Huang, Cheng, Nakamura, Tomonori, Deguchi, Kimiko, Choi, Kunho, Bhattacharjee, Meenakshi B, Arimura, Kimiyoshi, Umehara, Fujio, Izumo, Shuji, Northrop, Jennifer L, Salih, Mustafa AM, Inoue, Ken, Armstrong, Dawna L, Champoux, James J, Takashima, Hiroshi, Boerkoel, Cornelius F

Volltext

Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia von Morimoto, Marie, Choi, Kunho, Boerkoel, Cornelius F, Cho, Kyoung Sang

Volltext

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression von Baradaran-Heravi, Alireza, Cho, Kyoung Sang, Tolhuis, Bas, Sanyal, Mrinmoy, Morozova, Olena, Morimoto, Marie, Elizondo, Leah I, Bridgewater, Darren, Lubieniecka, Joanna, Beirnes, Kimberly, Myung, Clara, Leung, Danny, Fam, Hok Khim, Choi, Kunho, Huang, Yan, Dionis, Kira Y, Zonana, Jonathan, Keller, Kory, Stenzel, Peter, Mayfield, Christy, Lücke, Thomas, Bokenkamp, Arend, Marra, Marco A, van Lohuizen, Maarten, Lewis, David B, Shaw, Chad, Boerkoel, Cornelius F

Volltext

Identification of a Putative Tdp1 Inhibitor (CD00509) by in Vitro and Cell-Based Assays von Dean, Richard A., Fam, Hok Khim, An, Jianghong, Choi, Kunho, Shimizu, Yoko, Jones, Steven J.M., Boerkoel, Cornelius F., Interthal, Heidrun, Pfeifer, Tom A.

Volltext

TDP1 and PARP1 deficiency are cytotoxic to rhabdomyosarcoma cells von Fam, Hok Khim, Walton, Cheryl, Mitra, Sheetal A, Chowdhury, Miraj, Osborne, Nichola, Choi, Kunho, Sun, Guobin, Wong, Patrick C W, O'Sullivan, Maureen J, Turashvili, Gulisa, Aparicio, Samuel, Triche, Timothy J, Bond, Mason, Pallen, Catherine J, Boerkoel, Cornelius F

Volltext

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders von Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E, Boerkoel, Cornelius F

Volltext

Genome-wide microarray comparison reveals downstream genes of Pax6 in the developing mouse cerebellum von Ha, Thomas J., Swanson, Douglas J., Kirova, Roumyana, Yeung, Joanna, Choi, Kunho, Tong, Yiai, Chesler, Elissa J., Goldowitz, Daniel

Volltext

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) von Sanyal, Mrinmoy, Morimoto, Marie, Baradaran-Heravi, Alireza, Choi, Kunho, Kambham, Neeraja, Jensen, Kent, Dutt, Suparna, Dionis-Petersen, Kira Y, Liu, Lan Xiang, Felix, Katie, Mayfield, Christy, Dekel, Benjamin, Bokenkamp, Arend, Fryssira, Helen, Guillen-Navarro, Encarna, Lama, Giuliana, Brugnara, Milena, Lücke, Thomas, Olney, Ann Haskins, Hunley, Tracy E, Polat, Ayse Ipek, Yis, Uluc, Bogdanovic, Radovan, Mitrovic, Katarina, Berry, Susan, Najera, Lydia, Najafian, Behzad, Gentile, Mattia, Nur Semerci, C, Tsimaratos, Michel, Lewis, David B, Boerkoel, Cornelius F

Volltext

Elucidating the role of mitochondrial Tdp1 in response to oxidative stress von Fam, Hok Khim, Chowdhury, Miraj K., Walton, Cheryl, Choi, Kunho, Hendson, Glenda, Boerkoel, Cornelius F.

Volltext