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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2010, Volume 107, Issue 13, pp. 5961 - 5966
The P23H mutation within the rhodopsin gene (RHO) causes rhodopsin misfolding, endoplasmic reticulum (ER) stress, and activates the unfolded protein response... 
Animal models | Messenger RNA | Opsins | Transgenic animals | Retinitis pigmentosa | HeLa cells | Photoreceptors | Retina | Endoplasmic reticulum | Apoptosis | Autosomal dominant retinitis pigmentosa | Adeno-associated virus | Endoplasmic reticulum stress | Unfolded protein response | RETINAL DEGENERATION | CANCER CELLS | ER STRESS | MULTIDISCIPLINARY SCIENCES | BINDING-PROTEIN | adeno-associated virus | ENDOPLASMIC-RETICULUM STRESS | endoplasmic reticulum stress | DOMINANT RETINITIS-PIGMENTOSA | CELL-DEATH | autosomal dominant retinitis pigmentosa | unfolded protein response | MUTANT RHODOPSIN | MOUSE MODEL | MOLECULAR CHAPERONE | Dependovirus - genetics | Humans | Multiprotein Complexes | Stress, Physiological | Endoplasmic Reticulum - metabolism | Mutation, Missense | RNA, Messenger - metabolism | Rhodopsin - metabolism | Photoreceptor Cells, Vertebrate - physiology | Heat-Shock Proteins - genetics | Vision, Ocular - physiology | Transfection | Base Sequence | Retinitis Pigmentosa - physiopathology | Disease Models, Animal | Rhodopsin - chemistry | Electroretinography | Recombinant Proteins - metabolism | Rats, Transgenic | Unfolded Protein Response - genetics | Heat-Shock Proteins - metabolism | RNA, Messenger - genetics | Retina - physiopathology | Rats | Recombinant Proteins - chemistry | Retinitis Pigmentosa - genetics | Recombinant Proteins - genetics | Rats, Sprague-Dawley | Vision, Ocular - genetics | Animals | Rhodopsin - genetics | Retinitis Pigmentosa - therapy | Models, Biological | Mice | HeLa Cells | Transcription Factor CHOP - metabolism | Photoreceptor Cells, Vertebrate - pathology | Retina - pathology | Retinitis Pigmentosa - pathology | Unfolded Protein Response - physiology | Amino Acid Substitution | Rhodopsin | Care and treatment | Physiological aspects | Development and progression | Properties | Gene expression | Proteins | Cell culture | Membranes | Rodents | Mutation | Ribonucleic acid--RNA | Index Medicus | Biological Sciences
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2018, Volume 115, Issue 36, pp. E8547 - E8556
Inherited retinal degenerations are caused by mutations in >250 genes that affect photoreceptor cells or the retinal pigment epithelium and result in vision... 
Autosomal dominant retinitis pigmentosa | Retinal degeneration | RHO | RNA interference | Gene therapy | retinal degeneration | RIBOZYME RESCUE | INHERITED RETINAL DEGENERATION | MULTIDISCIPLINARY SCIENCES | gene therapy | ANTISENSE OLIGONUCLEOTIDE | MAMMALIAN-CELLS | DOMINANT RETINITIS-PIGMENTOSA | autosomal dominant retinitis pigmentosa | IN-VIVO | MOUSE MODEL | PHOTORECEPTOR DEGENERATION | LIGHT EXPOSURE | TRANSGENIC MICE | Humans | RNA, Catalytic - biosynthesis | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Retinal Rod Photoreceptor Cells - metabolism | Dependovirus | Gene Knockdown Techniques - methods | Animals | Rhodopsin - biosynthesis | Rhodopsin - genetics | Dogs | HEK293 Cells | RNA, Catalytic - genetics | Genetic Vectors | Gene Knock-In Techniques - methods | Retinitis Pigmentosa - pathology | Retinal Rod Photoreceptor Cells - pathology | Genetic Therapy - methods | Rhodopsin | Care and treatment | Retinitis pigmentosa | Genetic aspects | Health aspects | Methods | Rho protein | Retinal images | Genes | Clinical trials | Retina | Retinal pigment epithelium | Macular degeneration | Proteins | Histopathology | Degeneration | Electroretinography | Medical research | Genetic disorders | Preservation | RNA-mediated interference | Epithelium | Ribonucleic acids | Blindness | Photoreceptors | Retinitis | Mutation | Commercialization | Structure-function relationships | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 12/2018, Volume 96, Issue S261, pp. 36 - 36
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 99 - 104
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2018, Volume 136, Issue 5, p. 496
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 12/2018, Volume 96, Issue S261, pp. 62 - 62
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 08/2017, Volume 25, Issue 8, pp. 1866 - 1880
Journal Article
Science Translational Medicine, ISSN 1946-6234, 12/2015, Volume 7, Issue 318, pp. 318ra203 - 318ra203
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2014, Volume 9, Issue 12, pp. e115239 - e115239
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2018, Volume 13, Issue 12, pp. e0207958 - e0207958
Journal Article