Literature DB >> 28078276

Increased vulnerability of photoreceptors to aberrant splicing highlight the utility of AON-based therapy for CEP290-LCA.

Shannon E Boye1.   

Abstract

Entities:  

Year:  2016        PMID： 28078276      PMCID： PMC5222712          DOI： 10.21037/sci.2016.12.01

Source DB:  PubMed          Journal:  Stem Cell Investig        ISSN： 2306-9759


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  13 in total

1.  In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.

Authors:  Alejandro Garanto; Daniel C Chung; Lonneke Duijkers; Julio C Corral-Serrano; Muriël Messchaert; Ru Xiao; Jean Bennett; Luk H Vandenberghe; Rob W J Collin
Journal:  Hum Mol Genet       Date:  2016-04-22       Impact factor: 6.150

2.  CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.

Authors:  Rivka A Rachel; Erin A Yamamoto; Mrinal K Dewanjee; Helen L May-Simera; Yuri V Sergeev; Alice N Hackett; Katherine Pohida; Jeeva Munasinghe; Norimoto Gotoh; Bill Wickstead; Robert N Fariss; Lijin Dong; Tiansen Li; Anand Swaroop
Journal:  Hum Mol Genet       Date:  2015-04-09       Impact factor: 6.150

3.  Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors.

Authors:  Masayuki Akimoto; Hong Cheng; Dongxiao Zhu; Joseph A Brzezinski; Ritu Khanna; Elena Filippova; Edwin C T Oh; Yuezhou Jing; Jose-Luis Linares; Matthew Brooks; Sepideh Zareparsi; Alan J Mears; Alfred Hero; Tom Glaser; Anand Swaroop
Journal:  Proc Natl Acad Sci U S A       Date:  2006-02-27       Impact factor: 11.205

4.  CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

Authors:  E R Burnight; L A Wiley; A V Drack; T A Braun; K R Anfinson; E E Kaalberg; J A Halder; L M Affatigato; R F Mullins; E M Stone; B A Tucker
Journal:  Gene Ther       Date:  2014-05-08       Impact factor: 5.250

5.  CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

Authors:  Branch Craige; Che-Chia Tsao; Dennis R Diener; Yuqing Hou; Karl-Ferdinand Lechtreck; Joel L Rosenbaum; George B Witman
Journal:  J Cell Biol       Date:  2010-09-06       Impact factor: 10.539

6.  Effect of gene therapy on visual function in Leber's congenital amaurosis.

Authors:  James W B Bainbridge; Alexander J Smith; Susie S Barker; Scott Robbie; Robert Henderson; Kamaljit Balaggan; Ananth Viswanathan; Graham E Holder; Andrew Stockman; Nick Tyler; Simon Petersen-Jones; Shomi S Bhattacharya; Adrian J Thrasher; Fred W Fitzke; Barrie J Carter; Gary S Rubin; Anthony T Moore; Robin R Ali
Journal:  N Engl J Med       Date:  2008-04-27       Impact factor: 91.245

7.  Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

Authors:  William W Hauswirth; Tomas S Aleman; Shalesh Kaushal; Artur V Cideciyan; Sharon B Schwartz; Lili Wang; Thomas J Conlon; Sanford L Boye; Terence R Flotte; Barry J Byrne; Samuel G Jacobson
Journal:  Hum Gene Ther       Date:  2008-10       Impact factor: 5.695

8.  Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

Authors:  David A Parfitt; Amelia Lane; Conor M Ramsden; Amanda-Jayne F Carr; Peter M Munro; Katarina Jovanovic; Nele Schwarz; Naheed Kanuga; Manickam N Muthiah; Sarah Hull; Jean-Marc Gallo; Lyndon da Cruz; Anthony T Moore; Alison J Hardcastle; Peter J Coffey; Michael E Cheetham
Journal:  Cell Stem Cell       Date:  2016-04-14       Impact factor: 24.633

9.  Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus.

Authors:  V S Lopes; S E Boye; C M Louie; S Boye; F Dyka; V Chiodo; H Fofo; W W Hauswirth; D S Williams
Journal:  Gene Ther       Date:  2013-01-24       Impact factor: 5.250

10.  Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1.

Authors:  Sanford L Boye; James J Peterson; Shreyasi Choudhury; Seok Hong Min; Qing Ruan; K Tyler McCullough; Zhonghong Zhang; Elena V Olshevskaya; Igor V Peshenko; William W Hauswirth; Xi-Qin Ding; Alexander M Dizhoor; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2015-08-06       Impact factor: 4.793
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