RDS Functional Domains and Dysfunction in Disease.
暂无分享,去创建一个
[1] Shannon M. Conley,et al. The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. , 2014, Human molecular genetics.
[2] Shannon M. Conley,et al. Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS. , 2014, Human molecular genetics.
[3] A. Goldberg,et al. Membrane curvature generation by a C-terminal amphipathic helix in peripherin-2/rds, a tetraspanin required for photoreceptor sensory cilium morphogenesis , 2013, Journal of Cell Science.
[4] S. Baker,et al. A Single Valine Residue Plays an Essential Role in Peripherin/rds Targeting to Photoreceptor Outer Segments , 2013, PloS one.
[5] Shannon M. Conley,et al. A Partial Structural and Functional Rescue of a Retinitis Pigmentosa Model with Compacted DNA Nanoparticles , 2009, PloS one.
[6] Shannon M. Conley,et al. Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones. , 2009, Human molecular genetics.
[7] B. J. Klevering,et al. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene , 2008, Progress in Retinal and Eye Research.
[8] P. Yeagle,et al. Calcium dependent association of calmodulin with the C‐terminal domain of the tetraspanin protein peripherin/rds , 2007, Biochemistry.
[9] R. Lapointe,et al. Peripherin-2: an intracellular analogy to viral fusion proteins. , 2007, Biochemistry.
[10] N. Copeland,et al. The tetraspanin protein peripherin-2 forms a complex with melanoregulin, a putative membrane fusion regulator. , 2007, Biochemistry.
[11] M. Naash,et al. Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors , 2006, The Journal of cell biology.
[12] M. Naash,et al. The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice. , 2005, The Biochemical journal.
[13] M. Naash,et al. Role of the second intradiscal loop of peripherin/rds in homo and hetero associations. , 2005, Biochemistry.
[14] M. Naash,et al. The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. , 2004, Human molecular genetics.
[15] O. L. Moritz,et al. The C terminus of peripherin/rds participates in rod outer segment targeting and alignment of disk incisures. , 2004, Molecular biology of the cell.
[16] D. Zack,et al. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes , 2004, Ophthalmic genetics.
[17] R. Lewis,et al. Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene. , 2003, Investigative ophthalmology & visual science.
[18] L. Molday,et al. The cGMP-gated Channel and Related Glutamic Acid-rich Proteins Interact with Peripherin-2 at the Rim Region of Rod Photoreceptor Disc Membranes* , 2001, The Journal of Biological Chemistry.
[19] J. Findlay,et al. Peripherin/rds Influences Membrane Vesicle Morphology , 2000, The Journal of Biological Chemistry.
[20] Janet Rossant,et al. Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis , 2000, Nature Genetics.
[21] Christopher J. R. Loewen,et al. Disulfide-mediated Oligomerization of Peripherin/Rds and Rom-1 in Photoreceptor Disk Membranes , 2000, The Journal of Biological Chemistry.
[22] A. Napoli,et al. Fusion between retinal rod outer segment membranes and model membranes: a role for photoreceptor peripherin/rds. , 1998, Biochemistry.
[23] Christopher J. R. Loewen,et al. Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa. , 1998, Biochemistry.
[24] M. Naash,et al. The Effect of Peripherin/rds Haploinsufficiency on Rod and Cone Photoreceptors , 1997, The Journal of Neuroscience.
[25] R. Molday,et al. Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. , 1996, Biochemistry.
[26] R. Molday,et al. Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes. , 1995, Biochemistry.
[27] N. Shimizu,et al. A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa , 1993, Human Genetics.
[28] H. Jansen,et al. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. , 1985, Experimental eye research.
[29] K. Boesze-Battaglia,et al. ROM-1 potentiates photoreceptor specific membrane fusion processes. , 2007, Experimental eye research.
[30] A. Goldberg. Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations. , 2006, International review of cytology.
[31] A. Bird,et al. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. , 1994, Ophthalmology.