Literature DB >> 22183373

The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function.

Nele Schwarz1, Alison J Hardcastle, Michael E Cheetham.   

Abstract

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Year:  2012        PMID： 22183373     DOI： 10.1007/978-1-4614-0631-0_66

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  4 in total

1.  Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

Authors:  Alice E Davidson; Nele Schwarz; Lina Zelinger; Gabriele Stern-Schneider; Amelia Shoemark; Benjamin Spitzbarth; Menachem Gross; Uri Laxer; Jacob Sosna; Panagiotis I Sergouniotis; Naushin H Waseem; Robert Wilson; Richard A Kahn; Vincent Plagnol; Uwe Wolfrum; Eyal Banin; Alison J Hardcastle; Michael E Cheetham; Dror Sharon; Andrew R Webster
Journal:  Am J Hum Genet       Date:  2013-07-11       Impact factor: 11.025

2.  Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

Authors:  Nele Schwarz; Amanda-Jayne Carr; Amelia Lane; Fabian Moeller; Li Li Chen; Mònica Aguilà; Britta Nommiste; Manickam N Muthiah; Naheed Kanuga; Uwe Wolfrum; Kerstin Nagel-Wolfrum; Lyndon da Cruz; Peter J Coffey; Michael E Cheetham; Alison J Hardcastle
Journal:  Hum Mol Genet       Date:  2014-10-06       Impact factor: 6.150

3.  Correlative light and immuno-electron microscopy of retinal tissue cryostat sections.

Authors:  Thomas Burgoyne; Amelia Lane; William E Laughlin; Michael E Cheetham; Clare E Futter
Journal:  PLoS One       Date:  2018-01-09       Impact factor: 3.240

4.  Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.

Authors:  Amelia Lane; Katarina Jovanovic; Ciara Shortall; Daniele Ottaviani; Anna Brugulat Panes; Nele Schwarz; Rosellina Guarascio; Matthew J Hayes; Arpad Palfi; Naomi Chadderton; G Jane Farrar; Alison J Hardcastle; Michael E Cheetham
Journal:  Stem Cell Reports       Date:  2020-06-11       Impact factor: 7.765
  4 in total

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