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AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia.

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第一作者： Anil,Chekuri

第一单位： Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA.;Grousbeck Gene Therapy Center, Schepens Eye Research Institute, and Massachusetts Eye and Ear Infirmary, Boston, MA, USA.;Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

作者： Anil,Chekuri ^[1] ; Krishnakanth,Kondabolu ^[2] ; Emily G,Kirchner ^[2] ; Swanand,Koli ^[3] ; Matthew,Chagnon ^[3] ; Drenushe,Krasniqi-Vanmeter ^[4] ; Max E,Stern ^[5] ; Jessica,Bolduc ^[2] ; Giulia,Romano ^[6] ; Franco,Pagani ^[6] ; Luk H,Vandenberghe ^[3] ; Elisabetta,Morini ^[2] ; Susan A,Slaugenhaupt ^[2]

作者单位： Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA.;Grousbeck Gene Therapy Center, Schepens Eye Research Institute, and Massachusetts Eye and Ear Infirmary, Boston, MA, USA.;Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. ^[1] Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA. ^[2] Grousbeck Gene Therapy Center, Schepens Eye Research Institute, and Massachusetts Eye and Ear Infirmary, Boston, MA, USA.;Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. ^[3] Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. ^[4] Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. ^[5] International Center for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy. ^[6]

关键词 AAV2 intravitreal delivery ELP1 splicing correction ExSpeU1 MT: Non-coding RNAs exon-specific U1 snRNA familial dysautonomia;optic neuropathy retinal ganglion cells

DOI 10.1016/j.omtn.2025.102788

PMID 41536810

发布时间 2026-01-22

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