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Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2006, Volume 26, Issue 2, pp. 291 - 300
Abstract Several ubiquitously expressed genes encoding pre-mRNA splicing factors have been associated with autosomal dominant retinitis pigmentosa (adRP),... 
Neurology | RDS/Peripherin | Pre-mRNA splicing | PRPF31 | Fascin (FSCN2) | Autosomal dominant retinitis pigmentosa (adRP) | Photoreceptor | DEGENERATION SLOW RDS | RETINAL DEGENERATION | RHODOPSIN GENE | autosomal dominant retinitis pigmentosa (adRP) | photoreceptor | DISK MEMBRANES | fascin (FSCN2) | TRI-SNRNP | SACCHAROMYCES-CEREVISIAE | PATTERN DYSTROPHY | NEUROSCIENCES | RDS/peripherin | RNA SPLICING GENE | PERIPHERIN | MESSENGER-RNA | pre-mRNA splicing | Membrane Glycoproteins - metabolism | Oligonucleotide Array Sequence Analysis | Humans | Gene Expression Regulation, Developmental - genetics | RNA Splicing - genetics | Intermediate Filament Proteins - genetics | RNA Precursors - metabolism | Eye Proteins - genetics | Chromosome Disorders - physiopathology | Microfilament Proteins - genetics | Retinitis Pigmentosa - physiopathology | Animals, Newborn | Cell Line | Peripherins | Genetic Predisposition to Disease - genetics | Chromosome Disorders - metabolism | Alternative Splicing - genetics | Carrier Proteins - biosynthesis | Cells, Cultured | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | RNA Precursors - genetics | Mice, Inbred Strains | Mutation - genetics | Nerve Tissue Proteins - genetics | Membrane Glycoproteins - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Microfilament Proteins - biosynthesis | Animals | Photoreceptor Cells - physiopathology | Chickens | Photoreceptor Cells - metabolism | Mice | Genes, Dominant - genetics | Intermediate Filament Proteins - metabolism | Chromosome Disorders - genetics | Genetic research | Genetic aspects | Gene mutations | Gene expression | Retinal diseases | RDS | Peripherin
Journal Article
International Journal of Biochemistry and Cell Biology, ISSN 1357-2725, 2011, Volume 43, Issue 9, pp. 1392 - 1401
The eukaryotic endoplasmic reticulum operates multiple quality control mechanisms to ensure that only properly folded proteins are exported to their final... 
Drosophila arf72A small GTPase | ninaED1 | ER-associated degradation (ERAD) | Autosomal-dominant retinitis pigmentosa (ADRP) | ER quality control | ninaE | RETINAL DEGENERATION | RHODOPSIN MATURATION | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRAFFICKING | ER-ASSOCIATED DEGRADATION | SECRETORY PATHWAY | CELL BIOLOGY | UNFOLDED PROTEIN RESPONSE | ARF-LIKE GTPASES | TRANS-GOLGI NETWORK | ninaE(D1) | RETINITIS-PIGMENTOSA | Sequence Deletion | Endoplasmic Reticulum - metabolism | Drosophila Proteins - metabolism | Rhodopsin - metabolism | Drosophila melanogaster - genetics | Photoreceptor Cells, Invertebrate - ultrastructure | Recombinant Fusion Proteins - metabolism | Drosophila melanogaster - metabolism | Retinitis Pigmentosa | Membrane Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Disease Models, Animal | Green Fluorescent Proteins - metabolism | Animals, Genetically Modified | Membrane Proteins - genetics | Retinal Degeneration - genetics | Protein Folding | Protein Transport | Feedback, Physiological | Animals | Rhodopsin - genetics | Golgi Apparatus - metabolism | Drosophila Proteins - genetics | Photoreceptor Cells, Invertebrate - metabolism | Proteins | Rhodopsin | Analysis | Drosophila | Quality control | G proteins | Ophthalmology | Cell culture | retinal degeneration | Retinopathy | Retinitis pigmentosa | Secretion | Organelles | Golgi apparatus | Molecular modelling | Photoreceptors | Budding | Endoplasmic reticulum | Guanosinetriphosphatase
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 12/2000, Volume 21, Issue 4, pp. 251 - 256
A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. The mutation... 
Autosomal dominant retinitis pigmentosa | Genotype-phenotype correlation | Rhodopsin mutations
Journal Article
Biochemical Journal, ISSN 0264-6021, 06/2005, Volume 388, Issue 2, pp. 605 - 613
Journal Article
Ophthalmic Genetics, ISSN 0167-6784, 03/1996, Volume 17, Issue 1, pp. 29 - 33
A study was made of two families with autosomal dominant retinitis pigmentosa (ADRP) from Valencia (Spain). One family (ADRP15) was found to have a mutation in... 
Autosomal dominant (AD) | Rhodopsin | Retinitis pigmentosa (RP) | Peripherin-RDS | rhodopsin | retinitis pigmentosa (RP) | peripherin-RDS | GENETICS & HEREDITY | OPHTHALMOLOGY | MUTATIONS | autosomal dominant (AD)
Journal Article
Journal Article
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 | Biological Sciences
Journal Article