Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Elisa A. Waxman"'
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102317- (2024)
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the ATXN1 gene. Currently there are no disease-modifying treatments; however, previous work has shown the potential of
Externí odkaz:
https://doaj.org/article/29e2bfbcf05e4ad1ba3e0ed38d7d2a4d
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching
Autor:
Jennine M. Dawicki-McKenna, Alex J. Felix, Elisa A. Waxman, Congsheng Cheng, Defne A. Amado, Paul T. Ranum, Alexey Bogush, Lea V. Dungan, Jean Ann Maguire, Alyssa L. Gagne, Elizabeth A. Heller, Deborah L. French, Beverly L. Davidson, Benjamin L. Prosser
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract Alternative splicing of neuronal genes is controlled partly by the coordinated action of polypyrimidine tract binding proteins (PTBPs). While PTBP1 is ubiquitously expressed, PTBP2 is predominantly neuronal. Here, we define the PTBP2 footpri
Externí odkaz:
https://doaj.org/article/8fbfb46edfea4a479ef94d2853340d5a
Autor:
Madison B Wilken, Jean Ann Maguire, Lea V Dungan, Alyssa Gagne, Catherine Osorio-Quintero, Elisa A Waxman, Stella T Chou, Paul Gadue, Deborah L French, Christopher S Thom
Publikováno v:
bioRxiv
The CHOPWT17_TPM1KOc28 iPSC line was generated to interrogate the functions ofTropomyosin 1(TPM1) in primary human cell development. This line was reprogrammed from a previously published wild type control iPSC line.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::785455221ac6bd2e87bad3434f88f24b
https://doi.org/10.1101/2023.05.03.539242
https://doi.org/10.1101/2023.05.03.539242
Autor:
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Publikováno v:
EMBO molecular medicine 15(3), e14837 (2023). doi:10.15252/emmm.202114837
Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine-generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular sulfatases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::647dcd4cb4d733bf2d542ebfaf49054c
https://doi.org/10.15252/emmm.202114837
https://doi.org/10.15252/emmm.202114837
Autor:
Irene Antony, Elizabeth D. Buttermore, Gerarda Cappuccio, Juan Cruz Casabona, Gareth Chapman, Ivy Pin-Fang Chen, Harue Chou, Laurence Daheron, Alfred K. Dei-Ampeh, Thomas M. Durcan, Sandra J. Engle, Patrick Faloon, Kevin T. FitzGerald, Deborah L. French, James Giordano, Madison R. Glass, Komal Kaushik, Robin J. Kleiman, Teun Klein Gunnewiek, Kristen L. Kroll, Felix A. Kyere, Herbert M. Lachman, Brooke Latour, Mirjana Maletic-Savatic, Xiaobo Mao, Abigail Mariga, Gilles Maussion, Kesavan Meganathan, Swati Mishra, Nael Nadif Kasri, Andrew Petersen, Luisa Pimentel, Ramachandran Prakasam, Aiko Robert, Cecilia Rocha, Manuj Shah, Jason L. Stein, Maria Sundberg, Rik Van Der Kant, Coen Van Deursen, Elisa A. Waxman, Samantha Wu, Mingyao Ying, Damian W. Young, Jessica E. Young
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54858eaa91d9b0c887066db49c4fb4e5
https://doi.org/10.1016/b978-0-12-822277-5.01002-6
https://doi.org/10.1016/b978-0-12-822277-5.01002-6
Autor:
Jennine M. Dawicki-McKenna, Alex J. Felix, Elisa A. Waxman, Congsheng Cheng, Defne A. Amado, Paul T. Ranum, Alexey Bogush, Lea V. Dungan, Elizabeth A. Heller, Deborah L. French, Beverly L. Davidson, Benjamin L. Prosser
Alternative splicing of neuronal genes is controlled in part by the coordinated action of the polypyrimidine tract binding proteins (PTBP1 and PTBP2). While PTBP1 is ubiquitously expressed, PTBP2 is predominantly neuronal, controlling the expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ff3573b477e2d2714aa22d782a385d7
https://doi.org/10.1101/2022.07.15.500219
https://doi.org/10.1101/2022.07.15.500219
Autor:
Lars Schlotawa, Matthias Kettwig, Rebecca Ahrens-Nicklas, Matthias Baud, Nicola Brunetti-Pierri, Alyssa Gagne, Sophie Schroeder, Jilenia Monfregula, Tonatiuh Pena, Karthikeyan Radhakrishnan, Elisa A. Waxman, André Fischer, Deborah L. French, Michael H. Gelb, Jutta Gaertner
Publikováno v:
Molecular Genetics and Metabolism. 138:107308
Autor:
Elisa A. Waxman
Nuclear factor erythroid 2–related factor 2 (Nrf2) is a transcriptional activator of antioxidant response elements (ARE), which function to increase expression of antioxidant enzymes. Recent works suggests Nrf2 activation is a promising protective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e0a01dc00b68463c9b4f6e961b907c