Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Gael Carney"'
Publikováno v:
Journal of Lipid Research, Vol 49, Iss 2, Pp 410-419 (2008)
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). FALDH is an enzyme component of fatty alcohol:NAD ox
Externí odkaz:
https://doaj.org/article/17452101fe1a44fb82a6d42681c413cc
Autor:
Matthew M. Wielgosz, Rachel Koldej, Sheng Zhou, Arthur W. Nienhuis, Gael Carney, Jun Zhan, Brian P. Sorrentino
Publikováno v:
Human Gene Therapy Clinical Development. 24:77-85
Gene therapy for the treatment of Wiskott-Aldrich syndrome (WAS) presents an alternative to the current use of allogeneic bone marrow transplantation. We describe the development of a self-inactivating lentiviral vector containing chromatin insulator
Autor:
Scott Long, Rob Clark, John T. Gray, Jenny McIntosh, Amit C. Nathwani, James A. Allay, Arthur W. Nienhuis, Gael Carney, Andrew M. Davidoff, Paolo Fagone, Susan Sleep, David M. Tillman
Publikováno v:
Human Gene Therapy. 22:595-604
To generate sufficient clinical-grade vector to support a phase I/II clinical trial of adeno-associated virus serotype 8 (AAV8)-mediated factor IX (FIX) gene transfer for hemophilia B, we have developed a large-scale, good manufacturing practice (GMP
Autor:
Scott A. Brown, Jun Zhan, Matthew M. Wielgosz, Yoon-Sang Kim, Terry Coop, Muralidhar Reddivari, Richard J. Heath, Arthur W. Nienhuis, Gael Carney
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 2, Iss, Pp-(2015)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
We have developed a producer cell line that generates lentiviral vector particles of high titer. The vector encodes the Wiskott-Aldrich syndrome (WAS) protein. An insulator element has been added to the long terminal repeats of the integrated vector
Autor:
William B. Rizzo, Gael Carney
Publikováno v:
Human Mutation. 26:1-10
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromo
Publikováno v:
The American Journal of Human Genetics. 65(6):1547-1560
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). To define the molecular defects causing SLS, we performed
Publikováno v:
Biochemical and Molecular Medicine. 62:178-181
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). We identified a frequent FALDH mutation in exon 9 amo
Autor:
Gabriele Richard, Gael Carney, Warren G. Sanger, William B. Rizzo, Janae Rise, Dana S'aulis, Christopher W. Carr, Omar A. Abdul-Rahman, Holly Engelstad, M. Katharine Rudd
Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fead1a7383676bcb164a4210f339269
https://europepmc.org/articles/PMC3196763/
https://europepmc.org/articles/PMC3196763/
Autor:
Alessandro Terrinoni, Carlo Dionisi-Vici, Gael Carney, Giovanna Zambruno, Mauro Paradisi, Enrico Bertini, Wiliam B. Rizzo, Cristina Pedicelli, Gerry Melino, Biagio Didona, Andrea Codispoti
Sjögren–Larsson syndrome (SLS; MIM#270200) is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of medium- and long-chai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9dbc6a57011ca22874d0e016002bcb9
http://hdl.handle.net/2108/30422
http://hdl.handle.net/2108/30422
Publikováno v:
Human mutation. 24(2)
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or