Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Evgueni A Ivakine"'
Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
Autor:
Eleonora Maino, Daria Wojtal, Sonia L Evagelou, Aiman Farheen, Tatianna W Y Wong, Kyle Lindsay, Ori Scott, Samar Z Rizvi, Elzbieta Hyatt, Matthew Rok, Shagana Visuvanathan, Amanda Chiodo, Michelle Schneeweiss, Evgueni A Ivakine, Ronald D Cohn
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
Abstract Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately, animal models recapitulating such mutations are scarce, limiting our ability to stu
Externí odkaz:
https://doaj.org/article/79b8670d90524c9f9b3d247d4ec1653b
Autor:
Eleonora Maino, Ori Scott, Samar Z. Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, Evgueni A. Ivakine
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 7 (2024)
Externí odkaz:
https://doaj.org/article/102714651e424d538637bc0d58cdac43
Autor:
Matthew Rok, Tatianna Wai Ying Wong, Eleonora Maino, Abdalla Ahmed, Grace Yang, Elzbieta Hyatt, Kyle Lindsay, Sina Fatehi, Ryan Marks, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 246-258 (2023)
Duchenne muscular dystrophy (DMD) is a disease with a life-threatening trajectory resulting from mutations in the dystrophin gene, leading to degeneration of skeletal muscle and fibrosis of cardiac muscle. The overwhelming majority of mutations are m
Externí odkaz:
https://doaj.org/article/f6f44eb7d6ec40c3ab0d3efbe103235b
Autor:
Ori Scott, Shagana Visuvanathan, Emily Reddy, Deeqa Mahamed, Bin Gu, Chaim M. Roifman, Ronald D. Cohn, Cynthia J. Guidos, Evgueni A. Ivakine
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionHumans with gain-of-function (GOF) mutations in STAT1 (Signal Transducer and Activator of Transcription 1), a potent immune regulator, experience frequent infections. About one-third, especially those with DNA-binding domain (DBD) mutatio
Externí odkaz:
https://doaj.org/article/a92971508e374a85a787e6e51acaca8e
Autor:
Mark L. Schultz, Kylie J. Schache, Ruth D. Azaria, Esmée Q. Kuiper, Steven Erwood, Evgueni A. Ivakine, Nicole Y. Farhat, Forbes D. Porter, Koralege C. Pathmasiri, Stephanie M. Cologna, Michael D. Uhler, Andrew P. Lieberman
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
The folding and trafficking of transmembrane glycoproteins are essential for cellular homeostasis and are compromised in many diseases. In Niemann-Pick type C disease, a lysosomal disorder characterized by impaired intracellular cholesterol trafficki
Externí odkaz:
https://doaj.org/article/2bc188a944d2407a91abc2701d466d6c
Autor:
Steven Erwood, Onofrio Laselva, Teija M.I. Bily, Reid A. Brewer, Alexandra H. Rutherford, Christine E. Bear, Evgueni A. Ivakine
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1118-1128 (2020)
Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as
Externí odkaz:
https://doaj.org/article/eb2405ef414a48d59db42b474b399baf
Autor:
Sina Fatehi, Ryan M. Marks, Matthew J. Rok, Lucie Perillat, Evgueni A. Ivakine, Ronald D. Cohn
Publikováno v:
Human Gene Therapy. 34:388-403
Autor:
Tatianna Wai Ying Wong, Abdalla Ahmed, Grace Yang, Eleonora Maino, Sydney Steiman, Elzbieta Hyatt, Parry Chan, Kyle Lindsay, Nicole Wong, Diane Golebiowski, Joel Schneider, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 9 (2020)
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which i
Externí odkaz:
https://doaj.org/article/331a1839953f44fc84ba83fead6d8655
Autor:
Antonio Mollica, Safia Omer, Sonia L. Evagelou, Serhiy Naumenko, Lu Yi Li, Aideen Teeling, Kyle Lindsay, Steven Erwood, Robert M. Vernon, Julie D. Forman-Kay, Manohar Shroff, Rene E. Harrison, Ronald D. Cohn, Evgueni A. Ivakine
Tubulinopathies and neurodevelopmental ciliopathies are two groups of genetic disorders characterized by abnormal brain development resulting in structural brain malformations. Tubulinopathies are caused by dominant missense mutations in genes encodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66302f73209109abe5ce17590e19efe2
https://doi.org/10.1101/2023.05.23.23290232
https://doi.org/10.1101/2023.05.23.23290232
Autor:
Rebekah Tillotson, Keqin Yan, Julie Ruston, Taylor de Young, Alex Córdova, Valérie Turcotte- Cardin, Yohan Yee, Christine Taylor, Shagana Visuvanathan, Christian Babbs, Evgueni A Ivakine, John G Sled, Brian J Nieman, David J Picketts, Monica J Justice
Publikováno v:
Human Molecular Genetics.
ATRX is a chromatin remodelling ATPase that is involved in transcriptional regulation, DNA damage repair and heterochromatin maintenance. It has been widely studied for its role in ALT-positive cancers, but its role in neurological function remains e