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Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 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 | Biological Sciences
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2018, Volume 115, Issue 36, pp. E8547 - E8556
Journal Article
Human gene therapy, ISSN 1043-0342, 02/2016, Volume 27, Issue 2, pp. 134 - 147
Retinal degenerative diseases are a leading cause of irreversible blindness. Retinal cell death is the main cause of vision loss in genetic disorders such as... 
Reviews | PHOTORECEPTOR PRECURSORS | MEDICINE, RESEARCH & EXPERIMENTAL | RESTORES VISUAL RESPONSES | RETINAL PIGMENTED EPITHELIUM | PLURIPOTENT STEM-CELLS | CONE VIABILITY FACTOR | LEBER CONGENITAL AMAUROSIS | PHASE-I TRIAL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | OPTIMIZED ALLOTOPIC EXPRESSION | MOUSE MODEL | GENETICS & HEREDITY | RETINITIS-PIGMENTOSA | Leber Congenital Amaurosis - pathology | Cell- and Tissue-Based Therapy - methods | Dependovirus - genetics | Retina - metabolism | Optogenetics - methods | Blindness - metabolism | Humans | Blindness - pathology | Leber Congenital Amaurosis - metabolism | Lentivirus - genetics | cis-trans-Isomerases - metabolism | Blindness - therapy | Leber Congenital Amaurosis - therapy | Genetic Vectors - chemistry | Genetic Vectors - metabolism | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Clinical Trials as Topic | Leber Congenital Amaurosis - genetics | Blindness - genetics | Macular Degeneration - metabolism | Macular Degeneration - congenital | cis-trans-Isomerases - genetics | Macular Degeneration - genetics | Macular Degeneration - therapy | Retinitis Pigmentosa - therapy | CRISPR-Cas Systems | Adenoviruses, Human - genetics | Retina - pathology | Retinitis Pigmentosa - pathology | Genetic Therapy - methods | Macular Degeneration - pathology | Macular degeneration | Therapy | Cell death | Retinal cells | Retinitis pigmentosa | Blindness | Disorders | Retinal degeneration | Retina | Retinitis | Age | Life Sciences
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2010, Volume 329, Issue 5990, pp. 413 - 417
Journal Article
Science translational medicine, ISSN 1946-6242, 2015, Volume 7, Issue 318, pp. 318ra203 - 318ra203
Journal Article
Journal Article