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

• Published in: Nature communications Vol. 8; no. 1; pp. 271 - 10
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 16.08.2017; Nature Publishing Group; Nature Portfolio
• Subjects: 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

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...