Discovery and validation of human genomic safe harbor sites for gene and cell therapies

Autor: Erik Aznauryan, Alexander Yermanos, Elvira Kinzina, Anna Devaux, Edo Kapetanovic, Denitsa Milanova, George M. Church, Sai T. Reddy

Publikováno v: Cell Reports Methods, 2 (1)

Existing approaches to therapeutic gene transfer are marred by the transient nature of gene expression following non-integrative gene delivery and by safety concerns due to the random mechanism of viral-mediated genomic insertions. The disadvantages

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2732100b5f72f5396118f0afae32afe

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Autor: Penelope E. Bonnen, Langping He, Monika Oláhová, Garry K. Brown, Ines A. Barbosa, Erik Aznauryan, Charlotte L. Alston, Johannes Koch, John W. Yarham, Michael A. Simpson, Helen Mundy, Alex Broomfield, Ruth M. Brown, Tobias B. Haack, William C. Wilson, Charu Deshpande, Holger Prokisch, Georg M. Stettner, Julie Hall, Dorothea Moeslinger, Zofia M.A. Chrzanowska-Lightowlers, Steven A. Hardy, Robert McFarland, Robert W. Taylor, Andrew A. M. Morris, Robert N. Lightowlers

Publikováno v: Brain
Brain 138, 3503-3519 (2015)
Oláhová, M, Hardy, S A, Hall, J, Yarham, J W, Haack, T B, Wilson, W C, Alston, C L, He, L, Aznauryan, E, Brown, R M, Brown, G K, Morris, A A M, Mundy, H, Broomfield, A, Barbosa, I A, Simpson, M A, Deshpande, C, Moeslinger, D, Koch, J, Stettner, G M, Bonnen, P E, Prokisch, H, Lightowlers, R N, McFarland, R, Chrzanowska-Lightowlers, Z M A & Taylor, R W 2015, ' LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population ', Brain : a journal of neurology, vol. 138, no. 12, pp. 3503-3519 . https://doi.org/10.1093/brain/awv291

The French-Canadian variant of COX-deficient Leigh syndrome (LSFC) is unique to Québec and caused by a founder mutation in the LRPPRC gene. Using whole exome sequencing, Oláhová et al. identify mutations in this gene associated with multisystem mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef3f3a117edc848b627c5d07dad6678
http://europepmc.org/articles/PMC4655343

Xist recruits the X chromosome to the nuclear lamina to enable chromosome-wide silencing

Autor: Mitchell Guttman, Patrick McDonel, Chun-Kan Chen, Constanza Jackson, Erik Aznauryan, Amy Y. M. Chow, Mario Blanco, Christine Surka, Noah Ollikainen, Andrea Cerase

Publikováno v: Europe PubMed Central

The Xist long noncoding RNA orchestrates X chromosome inactivation, a process that entails chromosome-wide silencing and remodeling of the three-dimensional (3D) structure of the X chromosome. Yet, it remains unclear whether these changes in nuclear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f524627ddce09249c4c696b0f6baf91
https://resolver.caltech.edu/CaltechAUTHORS:20160418-091128052