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Human Molecular Genetics, ISSN 0964-6906, 02/2019, Volume 28, Issue 3, pp. 459 - 475
Abstract The retinal disease gene peripherin 2 (PRPH2) is essential for the formation of photoreceptor outer segments (OSs), where it functions in oligomers... 
RETINAL DEGENERATION | PHOTORECEPTOR PERIPHERIN/RDS | MEMBRANE CURVATURE GENERATION | ROD PHOTORECEPTORS | AMPHIPATHIC HELIX | C-TERMINUS | RDS MUTANT MICE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DISK MEMBRANES | CONE | ROM-1
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2000, Volume 25, Issue 3, pp. 306 - 310
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2018, Volume 39, Issue 3, pp. 357 - 365
Background: It is known that PRPH2 variants appear to be rare causes of retinitis pigmentosa (RP) in the Japanese population. The purpose of this study was to... 
Autosomal dominant | retinitis pigmentosa | mutation | haplotype | PRPH2 | PERIPHERIN-RDS GENE | POINT MUTATION | FAMILY | DYSTROPHY | GENETICS & HEREDITY | OPHTHALMOLOGY | R172W MUTATION | ROM-1
Journal Article
BIOCHEMICAL JOURNAL, ISSN 0264-6021, 06/2005, Volume 388, pp. 605 - 613
P/rds (peripherin/retinal degeneration slow) is a photoreceptor-specific membrane glycoprotein necessary for outer segment disc morphogenesis. Mutations in... 
MOLECULAR CHARACTERIZATION | RDS | retinal degeneration | PROTEIN | C214S | ROD | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | peripherin/rds | loss-of-function phenotype | DOMINANT RETINITIS-PIGMENTOSA | PHOTORECEPTOR DISK MEMBRANES | transgenic mice | GENE | retinitis pigmentosa | ROM-1
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 06/2001, Volume 276, Issue 25, pp. 22388 - 22396
Peripherin-2 and Rom-1 are homologous tetraspanning membrane proteins that assemble into noncovalent tetramers and higher order disulfide-linked oligomers... 
Rom-1 protein | peripherin-2
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2000, Volume 25, Issue 1, pp. 67 - 73
Journal Article
MOLECULAR BIOLOGY OF THE CELL, ISSN 1059-1524, 08/2003, Volume 14, Issue 8, pp. 3400 - 3413
Peripherin-2 is a member of the tetraspanin family of membrane proteins that plays a critical role in photoreceptor outer segment disk morphogenesis. Mutations... 
DEGENERATION SLOW RDS | RETINAL DEGENERATION | POST-GOLGI MEMBRANES | MUTANT MICE | GENE | RHODOPSIN | TRANSGENIC XENOPUS-LAEVIS | MUTATIONS | OUTER SEGMENT | ROM-1 | CELL BIOLOGY
Journal Article
Journal Article
Biochemistry, ISSN 0006-2960, 03/2005, Volume 44, Issue 12, pp. 4897 - 4904
Peripherin/rds (P/rds) is a disk rim protein that assembles into homo and hetero complexes with its nonglycosylated homologue, Rom-1, to maintain the integrity... 
DEGENERATION SLOW RDS | RETINAL DEGENERATION | PHOTORECEPTOR DISK MEMBRANES | MUTANT MICE | GENE | ROD | BIOCHEMISTRY & MOLECULAR BIOLOGY | MACULAR DYSTROPHY | MUTATIONS | ROM-1 | DOMINANT RETINITIS-PIGMENTOSA | Retina - metabolism | Immunoprecipitation | Membrane Glycoproteins - metabolism | Membrane Glycoproteins - chemistry | Eye Proteins - chemistry | Molecular Sequence Data | Membrane Proteins - deficiency | Nerve Tissue Proteins - chemistry | Glutathione Transferase - genetics | Intermediate Filament Proteins - genetics | Membrane Proteins - metabolism | Eye Proteins - genetics | Peptide Fragments - genetics | Tetraspanins | Recombinant Fusion Proteins - biosynthesis | Amino Acid Sequence | Peripherins | Peptide Fragments - metabolism | Membrane Proteins - genetics | Mice, Inbred C57BL | Protein Structure, Tertiary - genetics | Recombinant Fusion Proteins - chemistry | Nerve Tissue Proteins - genetics | Retina - chemistry | Membrane Glycoproteins - genetics | Mice, Knockout | Nerve Tissue Proteins - metabolism | Protein Structure, Secondary - genetics | Glutathione Transferase - biosynthesis | Peptide Fragments - chemistry | Animals | Eye Proteins - metabolism | Recombinant Fusion Proteins - genetics | Mice | COS Cells | Intermediate Filament Proteins - metabolism | Intermediate Filament Proteins - chemistry | Synthesis | Research | Gene mutations | Peptides | Protein binding
Journal Article
Journal Article