Literature DB >> 27868047

Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis.

Devin S McDougald1, Eric Kmiec2, Jason A Mills1.   

Abstract

Entities:  

Year:  2016        PMID: 27868047      PMCID: PMC5104579          DOI: 10.21037/sci.2016.10.03

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


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  9 in total

1.  In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

Authors:  Bo Chang; Hemant Khanna; Norman Hawes; David Jimeno; Shirley He; Concepcion Lillo; Sunil K Parapuram; Hong Cheng; Alison Scott; Ron E Hurd; John A Sayer; Edgar A Otto; Massimo Attanasio; John F O'Toole; Genglin Jin; Chengchao Shou; Friedhelm Hildebrandt; David S Williams; John R Heckenlively; Anand Swaroop
Journal:  Hum Mol Genet       Date:  2006-04-21       Impact factor: 6.150

2.  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

3.  Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.

Authors:  Theodore G Drivas; Erika L F Holzbaur; Jean Bennett
Journal:  J Clin Invest       Date:  2013-09-24       Impact factor: 14.808

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.  Induction of pluripotent stem cells from adult human fibroblasts by defined factors.

Authors:  Kazutoshi Takahashi; Koji Tanabe; Mari Ohnuki; Megumi Narita; Tomoko Ichisaka; Kiichiro Tomoda; Shinya Yamanaka
Journal:  Cell       Date:  2007-11-30       Impact factor: 41.582

7.  Safety and efficacy of gene transfer for Leber's congenital amaurosis.

Authors:  Albert M Maguire; Francesca Simonelli; Eric A Pierce; Edward N Pugh; Federico Mingozzi; Jeannette Bennicelli; Sandro Banfi; Kathleen A Marshall; Francesco Testa; Enrico M Surace; Settimio Rossi; Arkady Lyubarsky; Valder R Arruda; Barbara Konkle; Edwin Stone; Junwei Sun; Jonathan Jacobs; Lou Dell'Osso; Richard Hertle; Jian-xing Ma; T Michael Redmond; Xiaosong Zhu; Bernd Hauck; Olga Zelenaia; Kenneth S Shindler; Maureen G Maguire; J Fraser Wright; Nicholas J Volpe; Jennifer Wellman McDonnell; Alberto Auricchio; Katherine A High; Jean Bennett
Journal:  N Engl J Med       Date:  2008-04-27       Impact factor: 91.245

8.  DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

Authors:  Gisela G Slaats; Joshua C Saldivar; Julien Bacal; Michelle K Zeman; Andrew C Kile; Ann Marie Hynes; Shalabh Srivastava; Jekaterina Nazmutdinova; Krista den Ouden; Miriam S Zagers; Veronica Foletto; Marianne C Verhaar; Colin Miles; John A Sayer; Karlene A Cimprich; Rachel H Giles
Journal:  J Clin Invest       Date:  2015-08-24       Impact factor: 14.808

9.  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 in total
  1 in total

1.  Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.

Authors:  Kalyan Dulla; Ralph Slijkerman; Hester C van Diepen; Silvia Albert; Margo Dona; Wouter Beumer; Janne J Turunen; Hee Lam Chan; Iris A Schulkens; Lars Vorthoren; Cathaline den Besten; Levi Buil; Iris Schmidt; Jiayi Miao; Hanka Venselaar; Jingjing Zang; Stephan C F Neuhauss; Theo Peters; Sanne Broekman; Ronald Pennings; Hannie Kremer; Gerard Platenburg; Peter Adamson; Erik de Vrieze; Erwin van Wijk
Journal:  Mol Ther       Date:  2021-04-23       Impact factor: 12.910

  1 in total

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