Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Natalia Gomez‐Ospina"'
Autor:
Pasqualina Colella, Ruhi Sayana, Maria Valentina Suarez-Nieto, Jolanda Sarno, Kwamina Nyame, Jian Xiong, Luisa Natalia Pimentel Vera, Jessica Arozqueta Basurto, Marco Corbo, Anay Limaye, Kara L. Davis, Monther Abu-Remaileh, Natalia Gomez-Ospina
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-26 (2024)
Abstract Hematopoietic stem cell transplantation can deliver therapeutic proteins to the central nervous system (CNS) through transplant-derived microglia-like cells. However, current conditioning approaches result in low and slow engraftment of tran
Externí odkaz:
https://doaj.org/article/62a60cbf94d04968afb3e6f31e971cc5
Publikováno v:
Frontiers in Genome Editing, Vol 5 (2023)
Externí odkaz:
https://doaj.org/article/e86efa01aac249639a95a8183942dc2a
Autor:
Edina Poletto, Pasqualina Colella, Luisa N. Pimentel Vera, Shaukat Khan, Shunji Tomatsu, Guilherme Baldo, Natalia Gomez-Ospina
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 392-409 (2022)
Autologous hematopoietic stem cell transplantation using genome-edited cells can become a definitive therapy for hematological and non-hematological disorders with neurological involvement. Proof-of-concept studies using human genome-edited hematopoi
Externí odkaz:
https://doaj.org/article/138467156b384541b8cb54764f091280
Autor:
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M. Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L. Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E. McCandless, Chantal F. Morel, G. Bradley Schaefer, Elizabeth M. Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A. Scott, James R. Lupski, Christine M. Eng, Nan Wu, Bo Yuan
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. The role of H3.3 in somatic canc
Externí odkaz:
https://doaj.org/article/29cca276969242bdad121202e7d7f164
Autor:
Samantha G. Scharenberg, Edina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez-Ospina
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Gaucher disease is a lysosomal storage disorder caused by insufficient glucocerebrosidase expression. Here, the authors describe a CRISPR/Cas9-based gene-editing approach to re-express this enzyme in human blood stem cells and show that they can engr
Externí odkaz:
https://doaj.org/article/224d60d712dd4dc594a6f383d84a1ecd
Autor:
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatel
Externí odkaz:
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd
Autor:
Natalia Gomez-Ospina, Samantha G. Scharenberg, Nathalie Mostrel, Rasmus O. Bak, Sruthi Mantri, Rolen M. Quadros, Channabasavaiah B. Gurumurthy, Ciaran Lee, Gang Bao, Carlos J. Suarez, Shaukat Khan, Kazuki Sawamoto, Shunji Tomatsu, Nitin Raj, Laura D. Attardi, Laure Aurelian, Matthew H. Porteus
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Mucopolysaccharidosis type I (MPSI) is a lysosomal storage disease caused by insufficient iduronidase (IDUA) activity. Here, the authors use an ex vivo genome editing approach to overexpress IDUA in human hematopoietic stem and progenitor cells and s
Externí odkaz:
https://doaj.org/article/8f066f14a98c44ea90d2d9109e701772
Autor:
Daniel P. Dever, Samantha G. Scharenberg, Joab Camarena, Eric J. Kildebeck, Joseph T. Clark, Renata M. Martin, Rasmus O. Bak, Yuming Tang, Monika Dohse, Johannes A. Birgmeier, Karthik A. Jagadeesh, Gill Bejerano, Ann Tsukamoto, Natalia Gomez-Ospina, Nobuko Uchida, Matthew H. Porteus
Publikováno v:
iScience, Vol 15, Iss , Pp 524-535 (2019)
Summary: Human neural stem cells (NSCs) offer therapeutic potential for neurodegenerative diseases, such as inherited monogenic nervous system disorders, and neural injuries. Gene editing in NSCs (GE-NSCs) could enhance their therapeutic potential. W
Externí odkaz:
https://doaj.org/article/2fa9e32ecf84457fb9e04fdb55b3dba9
Autor:
Sabine J. van Dijk, Andrea A. Domenighetti, Natalia Gomez-Ospina, Patricia Hunter, Caroline A. Lindemans, Veerle Melotte, Annemarie M. C. van Rossum, Norman D. Rosenblum
Publikováno v:
Frontiers in Medicine, Vol 6 (2019)
Biomedical scientists aim to contribute to further understanding of disease pathogenesis and to develop new diagnostic and therapeutic tools that relieve disease burden. Yet the majority of biomedical scientists do not develop their academic career o
Externí odkaz:
https://doaj.org/article/c6507409e97e478388fd6f1d89f156bb
Autor:
Natalia Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer L. Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Neonatal cholestasis is a result of elevated bile acid levels, and is associated with mutations in genes regulating bile acid homeostasis. Here the authors identify mutations in the bile acid sensing farnesoid X receptor in four individuals with neon
Externí odkaz:
https://doaj.org/article/e73281ebd5d34ed788509187b61992e0