Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

被引：0
|
作者：
Jeremy C McIntyre
Erica E Davis
Ariell Joiner
Corey L Williams
I-Chun Tsai
Paul M Jenkins
Dyke P McEwen
Lian Zhang
John Escobado
Sophie Thomas
Katarzyna Szymanska
Colin A Johnson
Philip L Beales
Eric D Green
James C Mullikin
NISC Comparative Sequencing Program
Aniko Sabo
Donna M Muzny
Richard A Gibbs
Tania Attié-Bitach
Bradley K Yoder
Randall R Reed
Nicholas Katsanis
Jeffrey R Martens
机构：
[1] University of Michigan,Department of Pharmacology
[2] Center for Human Disease Modeling,Department of Pediatrics
[3] Duke University Medical Center,Department of Cell Biology
[4] Duke University Medical Center,Département de Génétique et INSERM U
[5] Duke University Medical Center,781
[6] Hôpital Necker-Enfants Malades,Department of Cell Biology
[7] Université Paris Descartes,Department of Molecular Biology and Genetics
[8] Section of Ophthalmology and Neurosciences,undefined
[9] Leeds Institute of Molecular Medicine,undefined
[10] St. James's University Hospital,undefined
[11] Molecular Medicine Unit,undefined
[12] Institute of Child Health,undefined
[13] University College London,undefined
[14] US National Institutes of Health Intramural Sequencing Center,undefined
[15] National Human Genome Research Institute,undefined
[16] National Institutes of Health,undefined
[17] Human Genome Sequencing Center,undefined
[18] Baylor College of Medicine,undefined
[19] University of Alabama at Birmingham,undefined
[20] Johns Hopkins University,undefined
来源：
Nature Medicine | 2012年 / 18卷
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学科分类号：
摘要：
Ciliopathies are caused by alterations in the development and function of cilia. Now Jeffrey Martens and his colleagues demonstrate anatomic and functional rescue of cilia development in mature, differentiated neurons by adenovirus-mediated restoration of expression of the wild-type protein intraflagellar transport protein 88 (Ift88) and show restoration of olfactory function in a mouse model of ciliopathy. A loss-of-function mutation in IFT88 is also identified in individuals with ciliopathies.
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收藏
页码：1423 / 1428
页数：5
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