Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

Mutations in the Retinitis Pigmentosa GTPase Regulator ( RPGR ) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness. RPGR localises to the photoreceptor connecting cilium where its function remains unknown. Here we show, using murine and human indu...

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Vydáno v:	Nature communications Ročník 8; číslo 1; s. 271 - 10
Hlavní autoři:	Megaw, Roly, Abu-Arafeh, Hashem, Jungnickel, Melissa, Mellough, Carla, Gurniak, Christine, Witke, Walter, Zhang, Wei, Khanna, Hemant, Mill, Pleasantine, Dhillon, Baljean, Wright, Alan F., Lako, Majlinda, ffrench-Constant, Charles
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London Nature Publishing Group UK 16.08.2017 Nature Publishing Group Nature Portfolio
Témata:	692/308/1426 692/699/3161/3175 Actin Actins - metabolism Animal models Animals Carrier Proteins - genetics Carrier Proteins - metabolism Cilia - metabolism Disease Models, Animal Dystrophy Eye Proteins - genetics Eye Proteins - metabolism Gelsolin Gelsolin - genetics Gelsolin - metabolism Guanosine triphosphatases Humanities and Social Sciences Humans Induced Pluripotent Stem Cells Mice Mice, Knockout multidisciplinary Mutation Photoreceptor Cells, Vertebrate - metabolism Photoreceptors Pluripotency Protein Transport Retina Retinal degeneration Retinitis pigmentosa Retinitis Pigmentosa - genetics Retinitis Pigmentosa - metabolism Rhodopsin Rhodopsin - metabolism Science Science (multidisciplinary) Stem cell transplantation Stem cells
ISSN:	2041-1723, 2041-1723
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