Publications:

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2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O

Publication Date: 2022-08-30

Variant appearance in text: DMD: E2035X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

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Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough.

Plos Biology

Hosseini-Farahabadi, Sara S; Baradaran-Heravi, Alireza A; Zimmerman, Carla C; Choi, Kunho K; Flibotte, Stephane S; Roberge, Michel M

Publication Date: 2021-05

Variant appearance in text: DMD: E2035X

PubMed Link: 33939688

Variant Present in the following documents:

• Main text

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Effect of small molecule eRF3 degraders on premature termination codon readthrough.

Nucleic Acids Research

Baradaran-Heravi, Alireza A; Balgi, Aruna D AD; Hosseini-Farahabadi, Sara S; Choi, Kunho K; Has, Cristina C; Roberge, Michel M

Publication Date: 2021-04-19

Variant appearance in text: DMD: 6103G>T; E2035X

PubMed Link: 33764477

Variant Present in the following documents:

• Main text
• gkab194.pdf

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Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Baradaran-Heravi, Alireza A; Niesser, Jürgen J; Balgi, Aruna D AD; Choi, Kunho K; Zimmerman, Carla C; South, Andrew P AP; Anderson, Hilary J HJ; Strynadka, Natalie C NC; Bally, Marcel B MB; Roberge, Michel M

Publication Date: 2017-03-28

Variant appearance in text: DMD: 6103G>T; E2035X

PubMed Link: 28289221

Variant Present in the following documents:

• Main text

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Novel small molecules potentiate premature termination codon readthrough by aminoglycosides.

Nucleic Acids Research

Baradaran-Heravi, Alireza A; Balgi, Aruna D AD; Zimmerman, Carla C; Choi, Kunho K; Shidmoossavee, Fahimeh S FS; Tan, Jason S JS; Bergeaud, Célia C; Krause, Alexandra A; Flibotte, Stéphane S; Shimizu, Yoko Y; Anderson, Hilary J HJ; Mouly, Vincent V; Jan, Eric E; Pfeifer, Tom T; Jaquith, James B JB; Roberge, Michel M

Publication Date: 2016-08-19

Variant appearance in text: DMD: 6103G>T; E2035X

PubMed Link: 27407112

Variant Present in the following documents:

• Main text
• gkw638.pdf

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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One

Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW

Publication Date: 2013

Variant appearance in text: DMD: E2035X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

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Rapid direct sequence analysis of the dystrophin gene.

American Journal Of Human Genetics

Flanigan, Kevin M KM; von Niederhausern, Andrew A; Dunn, Diane M DM; Alder, Jonathan J; Mendell, Jerry R JR; Weiss, Robert B RB

Publication Date: 2003-04

Variant appearance in text: DMD: Glu2035X

PubMed Link: 12632325

Variant Present in the following documents:

• Main text

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