PABPN1 gene therapy for oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy is caused by trinucleotide repeat expansions in thePABPN1gene. Here the authors use AAV-based gene therapy to knockdown the mutant gene and replace it with a wild-type allele, and show effectiveness in mice and in patient cells.

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Autores principales:	A. Malerba, P. Klein, H. Bachtarzi, S. A. Jarmin, G. Cordova, A. Ferry, V. Strings, M. Polay Espinoza, K. Mamchaoui, S. C. Blumen, J. Lacau St Guily, V. Mouly, M. Graham, G. Butler-Browne, D. A. Suhy, C. Trollet, G. Dickson
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/3641f54286a54c1ab1a1d2021d381ebf
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spelling	oai:doaj.org-article:3641f54286a54c1ab1a1d2021d381ebf2021-12-02T14:42:38ZPABPN1 gene therapy for oculopharyngeal muscular dystrophy10.1038/ncomms148482041-1723https://doaj.org/article/3641f54286a54c1ab1a1d2021d381ebf2017-03-01T00:00:00Zhttps://doi.org/10.1038/ncomms14848https://doaj.org/toc/2041-1723Oculopharyngeal muscular dystrophy is caused by trinucleotide repeat expansions in thePABPN1gene. Here the authors use AAV-based gene therapy to knockdown the mutant gene and replace it with a wild-type allele, and show effectiveness in mice and in patient cells.A. MalerbaP. KleinH. BachtarziS. A. JarminG. CordovaA. FerryV. StringsM. Polay EspinozaK. MamchaouiS. C. BlumenJ. Lacau St GuilyV. MoulyM. GrahamG. Butler-BrowneD. A. SuhyC. TrolletG. DicksonNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q A. Malerba P. Klein H. Bachtarzi S. A. Jarmin G. Cordova A. Ferry V. Strings M. Polay Espinoza K. Mamchaoui S. C. Blumen J. Lacau St Guily V. Mouly M. Graham G. Butler-Browne D. A. Suhy C. Trollet G. Dickson PABPN1 gene therapy for oculopharyngeal muscular dystrophy
description	Oculopharyngeal muscular dystrophy is caused by trinucleotide repeat expansions in thePABPN1gene. Here the authors use AAV-based gene therapy to knockdown the mutant gene and replace it with a wild-type allele, and show effectiveness in mice and in patient cells.
format	article
author	A. Malerba P. Klein H. Bachtarzi S. A. Jarmin G. Cordova A. Ferry V. Strings M. Polay Espinoza K. Mamchaoui S. C. Blumen J. Lacau St Guily V. Mouly M. Graham G. Butler-Browne D. A. Suhy C. Trollet G. Dickson
author_facet	A. Malerba P. Klein H. Bachtarzi S. A. Jarmin G. Cordova A. Ferry V. Strings M. Polay Espinoza K. Mamchaoui S. C. Blumen J. Lacau St Guily V. Mouly M. Graham G. Butler-Browne D. A. Suhy C. Trollet G. Dickson
author_sort	A. Malerba
title	PABPN1 gene therapy for oculopharyngeal muscular dystrophy
title_short	PABPN1 gene therapy for oculopharyngeal muscular dystrophy
title_full	PABPN1 gene therapy for oculopharyngeal muscular dystrophy
title_fullStr	PABPN1 gene therapy for oculopharyngeal muscular dystrophy
title_full_unstemmed	PABPN1 gene therapy for oculopharyngeal muscular dystrophy
title_sort	pabpn1 gene therapy for oculopharyngeal muscular dystrophy
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/3641f54286a54c1ab1a1d2021d381ebf
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PABPN1 gene therapy for oculopharyngeal muscular dystrophy

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