Abstract
We describe a protocol for native fractionation of membrane-bound protein complexes from isolated porcine rod outer segments (ROSs). Protein complexes from isolated ROS membranes were solubilized using the nonionic detergent beta-dodecylmaltoside and fractionated by isopycnic sucrose density gradien...
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PMID: 18592179
PDF is available here.
Abstract
We determined whether there were differential profiles of chemokines in the plasma of children with ASD compared to age-matched typically developing controls and children with developmental disabilities other than ASD. Increased MCP-1, RANTES and eotaxin levels were observed in ASD children compared...
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PMID: 21095018
PDF is available here.
Abstract
In 1950, γ-aminobutyric acid (GABA) was discovered in the brain and in 1967 it was recognized as an inhibitory neurotransmitter. The discovery of the benzodiazepines Librium® (launched in 1960) and Valium® by Sternbach initiated huge research activities resulting in 50 marketed dr...
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PMID: 21428811
PDF is available here.
Abstract
The retinal pigment epithelium (RPE) is essential for retinoid recycling and phagocytosis of photoreceptors. Understanding of proteome changes that mediate oxidative stress-induced degeneration of RPE cells may provide further insight into the molecular mechanisms of retinal diseases...
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PMID: 21074641
PDF is available here.
Abstract
We studied the temporal generation and diversity of Neurog2-positive precursor progeny using an inducible genetic fate mapping approach. We show that all subtypes of glutamatergic neurons derive from Neurog2 positive progenitors during development of the OB. Projection neurons, that is, mitral and t...
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PMID: 21466690
PDF is available here.
Abstract
Sertoli cells (SCs) provide an immunoprotective environment to pancreatic islet grafts for treatment of insulin-dependent diabetes. Aim of this work was to verify whether intraperitoneal graft of SCs, enveloped in barium alginate-based microcapsules, would reverse overt spontaneous diabetes in nonob...
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PMID: 21197711
PDF is available here.
Abstract
We summarized the currently emerging information regarding the function of SUMOylation in ocular development and pathology....
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PMID: 21091425
PDF is available here.
Abstract
To determine the concentration of myocilin in primary open-angle glaucoma (POAG) and pseudoexfoliation glaucoma (PEXG) aqueous humor.
Aqueous humor was collected during surgery from patients with POAG, PEXG, and elective cataract removal (control). Volume-equivalent aqueous samples were separated on...
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PMID: 20179615
PDF is available here.
Abstract
We used immunohistochemistry to evaluate the expression of Oct4 (also known as Oct3 or POU5F1), a transcription factor expressed in primordial germ cells and embryonic stem cells, along with that of PAX6, a transcription factor contributing to neurogenesis, and CD56, a known marker for tumors of neu...
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PMID: 21107090
PDF is available here.
Abstract
We studied the influences of dietary LC-PUFAs in dams (C57BL/6 and C3H/He) on the eye morphogenesis and organogenesis of their pups. Intriguingly, fetuses and newborn mice from C57BL/6 dams fed an LC-PUFA (particularly ARA)-enriched diet displayed a much higher incidence of eye abnormalities such as...
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PMID: 20951676
PDF is available here.
Abstract
Our pilot trial of DHA supplementation in 8 patients with Best disease did not demonstrate an improvement in macular function. An expanded trial would be needed to examine the full effects of DHA supplementation on visual function in Best disease....
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PMID: 20847757
PDF is available here.
Abstract
To report an unusual presentation of posterior polymorphous corneal dystrophy (PPCD) associated with band keratopathy, iridocorneal adhesions, heterochromia, keratoconus, and confocal microscopic findings suggestive of iridocorneal endothelial syndrome.
Confocal microscopy, corneal topography, elect...
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PMID: 20567203
PDF is available here.
Abstract
To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood.
Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patie...
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PMID: 20569020
PDF is available here.
Abstract
Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production of chromopho...
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PMID: 20399883
PDF is available here.
Abstract
We outline progress that has been made in the functional characterization of RPE65. We then discuss general concepts related to protein-membrane interactions and the mechanism of the retinoid isomerization reaction and describe some of the important biochemical and structural features of RPE65 with...
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PMID: 20304090
PDF is available here.
Abstract
PEDF downregulates VEGF expression and inhibits corneal NV induced by chemical cauterization. The results suggested that PEDF has therapeutic potential for corneal neovascular diseases....
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PMID: 20539216
PDF is available here.
Abstract
We investigated the effect of PEDF gene loaded in PLGA nanoparticles (PEDF-PLGANPs) on the mouse colon carcinoma cells (CT26s) in vitro and in vivo. Blank PLGANPs (bPLGANPs) showed lower cytotoxicity than PEI to the CT26s. In vitro, PEDF-PLGANPs directly induced CT26 apoptosis and inhibit human umbi...
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PMID: 20664971
PDF is available here.
Abstract
The functional characteristics of the DNA fragments responsible for chromosome attachment to the nuclear envelope during the interphase (neDNAs) have been studied. The neDNAs flanking the transgene have been found to promote a steadily high rate of its expression, irrespective of the site of its ins...
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PMID: 21061611
PDF is available here.
Abstract
We identified putative sites of post-translational modification in the NRL protein by in silico analysis. Here, we demonstrate the sumoylation of NRL in vivo and in vitro, with two small ubiquitin-like modifier (SUMO) molecules attached to the Lys-20 residue. NRL-K20R and NRL-K20R/K24R sumoylation m...
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PMID: 20551322
PDF is available here.
Abstract
We compared a DNA search of multidomain proteins with a search of isolated domains. Furthermore, we studied how manipulating the binding affinity of a single domain to DNA can affect the overall DNA search of the multidomain protein. Tethering the two domains via a flexible linker increases their af...
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PMID: 20713004
PDF is available here.
Abstract
Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. At least 32 genes and loci have been implicated in non-syndromic autosomal recessive RP. Progressive rod-cone degeneration is a canine form of autosomal recessive retinal degeneration, which serves as an animal mod...
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PMID: 20507925
PDF is available here.
Abstract
The gene therapy vector tgAAG76 (rAAV 2/2.hRPE65p.hRPE65) is in joint development by Targeted Genetics Corp, Moorfields Eye Hospital and the University of London. The vector is a recombinant adeno-associated virus vector that contains the human RPE65 gene under the control of the human RPE65 promote...
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PMID: 20677098
PDF is available here.
Abstract
We highlight the advances made by recent structural and biochemical studies that have important implications for the mechanism and regulation of Brr2p activity. We also discuss the involvement of human Brr2 in retinitis pigmentosa, a degenerative eye disease, and how its functions in splicing might...
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PMID: 20659012
PDF is available here.
Abstract
We investigated RPE65 cleavage and potential regulatory mechanisms under oxidative stress conditions. The D407 RPE cell cultures were exposed to H(2)O(2) (100-1000 microM). Changes in the levels of RPE65 and proteins related to apoptosis were investigated using gel electrophoresis and western blotti...
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PMID: 20510285
PDF is available here.
Abstract
The aim of this study was to investigate the effect of anti-mouse IL-6 receptor monoclonal antibody (MR16-1) treatment on CD4 T cell differentiation and compared it to the effect of anti-TNF mAb treatment with using a murine model of experimental autoimmune uveoretinitis (EAU). C57BL/6 mice were imm...
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PMID: 20420831
PDF is available here.
Abstract
We review the recent literature on VLC-PUFA with special emphasis on the elongases responsible for their synthesis. We focus on a novel elongase, ELOVL4, involved in the synthesis of VLC-PUFA, and the importance of these FAs in maintaining the structural and functional integrity of retinal photorece...
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PMID: 20299492
PDF is available here.
Abstract
We examined the influence of GDNF on the expression of neurogenin3 (Ngn3) and other transcription factors implicated in early beta-cell development, as well as on beta-cell proliferation during embryonic and early postnatal mouse pancreas development. Embryonic day 15.5 (E15.5) mouse pancreatic tiss...
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PMID: 20448145
PDF is available here.
Abstract
Best vitelliform macular dystrophy (BVMD, also called Best's disease) is a dominantly inherited, juvenile-onset form of macular degeneration, which is characterized by abnormal accumulation of yellow pigment in the outer retina and a depressed electro-oculogram light peak (LP). Over 100 disease-caus...
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PMID: 20349192
PDF is available here.
J Pang,
S E Boye,
B Lei,
S L Boye,
D Everhart,
R Ryals,
Y Umino,
B Rohrer,
J Alexander,
J Li,
X Dai,
Q Li,
B Chang,
R Barlow and
W W Hauswirth
Abstract
We studied two mouse lines: the Rpe65-deficient rd12 mouse and the Rpe65-deficient, rhodopsin null ('that is, cone function-only') Rpe65(-/-)::Rho(-/-) mouse. scAAV5 expressing RPE65 was injected subretinally into one eye of rd12 and Rpe65(-/-)::Rho(-/-) mice at postnatal day 14 (P14). Contralateral...
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PMID: 20237510
PDF is available here.
Abstract
Purpose. Previous studies indicate that the upregulation of alphaA crystallin prevents photoreceptor mitochondrial oxidative stress-mediated apoptosis in experimental autoimmune uveitis (EAU). In this study, the role of TLR4 was investigated in the upregulation of alphaA crystallin in the retinas of...
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PMID: 20207969
PDF is available here.
Abstract
PURPOSE. Ocular growth is regulated locally by signals produced in the retina. The highly heterogeneous nature of the retina may mask important changes in gene expression during global analysis. This study was conducted to investigate changes in gene expression specifically within the amacrine cell...
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PMID: 20207967
PDF is available here.
Abstract
We show that Ahi1, a gene that when mutated results in the neurodevelopmental disorder, Joubert syndrome (JBTS), is required for photoreceptor sensory cilia formation and the development of photoreceptor outer segments. In mice with a targeted deletion of Ahi1, photoreceptors undergo early degenerat...
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PMID: 20592197
PDF is available here.
Abstract
We identified more potential biomarkers in pleural effusion, which is closer to the affected organ, than in serum. Nevertheless, in both cases principal component analysis demonstrated that the pattern of significantly altered proteins discriminates between disease groups. The biomarker candidates c...
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PMID: 20230924
PDF is available here.
Abstract
We demonstrated that recombinant adeno-associated virus (rAAV)-mediated gene transfer of the doxycycline (Dox)-regulatable system allows for the regulation of erythropoietin (EPO) expression in the retina of nonhuman primates after intravenous or oral administration of Dox. In addition, it was shown...
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PMID: 20354505
PDF is available here.
Abstract
We report an efficient method to simultaneously measure multiple mRNA levels utilizing mass spectrometry (MS) and molecular affinity isolation. In this approach, reverse transcription products of a group of mRNAs are subjected to competitive PCR with competitors and internal standards of known conce...
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PMID: 20410241
PDF is available here.
Abstract
In an ongoing project directed toward the discovery of novel treatments for diabetic complications from traditional herbal medicines, fifteen compounds, apigenin (1), apigenin-7-O-beta-D: -glucopyranoside (2), apigenin-7-O-(6''-O-acetyl)-beta-D: -glucopyranoside (3), luteolin (4), luteolin-7-O-beta-...
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PMID: 20607492
PDF is available here.
Abstract
We previously demonstrated the feasibility of photoreceptor transplantation using cells from the developing retina. CE cells could provide a renewable source of photoreceptors for transplantation. Several laboratories reported that these cells generate new photoreceptors, whereas a recent report que...
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PMID: 20506130
PDF is available here.
Johanna Knöferle,
Sanja Ramljak,
Jan C Koch,
Lars Tönges,
Abdul R Asif,
Uwe Michel,
Fred S Wouters,
Stephan Heermann,
Kerstin Krieglstein,
Inga Zerr,
Mathias Bähr and
Paul Lingor
Abstract
We show here that Transforming growth factor-beta 1 (TGF-beta), a multifunctional cytokine and trophic factor for dopaminergic (DAergic) neurons modulates proteasome function in primary midbrain neurons. TGF-beta differentially inhibited proteasomal subactivities with a most pronounced time-dependen...
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PMID: 20211260
PDF is available here.
Abstract
Isolation of RGCL by LCM allows a more refined detection of gene response to elevated pressure and improves the potential of determining cellular mechanisms in RGCs and their supporting cells that could be targets for enhancing RGC survival....
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PMID: 20071680
PDF is available here.
Abstract
These results suggest that signaling of TLR2, TRL3, TRL4, and TRL9 is highly redundant in the adjuvant effect needed to induce EAU and that diverse microbial infections may contribute to the pathogenesis of diseases such as uveitis....
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PMID: 20107166
PDF is available here.
Abstract
The data suggest that p38 MAP kinase and ERK act upstream of GSK/beta-catenin in VEGF-induced activation of the uPA/uPAR system and that PEDF-mediated inhibition of the VEGF-induced increase in vascular permeability involves blockade of this pathway. These findings are important for developing preci...
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PMID: 20089873
PDF is available here.
Mary K Wirtz,
John R Samples,
Victoria Toumanidou,
Jac Charlesworth,
Dimitrios G Mikropoulos,
Konstantinos Kaltsos,
Athanasios Economou,
Antonios Dimopoulos,
Irene N Georgiadou,
Georgios Moumtzis,
Athanasios Papanastasiou,
Patricia L Kramer,
Tom Dyer,
John Blangero and
Anastasios G P Konstas
Abstract
This village had a high frequency of glaucoma, with 12% of the participants aged 10 to 95 years having the disease. In this cohort, the Thr377Met MYOC mutation was significantly associated with both high intraocular pressures and high vertical cup-to-disc ratios. No association was found with centra...
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PMID: 20107173
PDF is available here.
Abstract
The results obtained in the present study made it possible to place selected markers responsible for development of the nervous and skeletal systems on the physical map of the donkey genome. Fluorescence in situ hybridization (FISH) was used to localize genes such as GDF5 (15q13), FRZB (4q23.1), TWI...
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PMID: 20626768
PDF is available here.
Abstract
We use in utero electroporation and genetic fate mapping to show that SNPs and RGCs cohabit the VZ but display different cell cycle kinetics and generate phenotypically different progeny. In addition, we find that RGC progeny undergo additional rounds of cell division as intermediate progenitor cell...
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PMID: 20484645
PDF is available here.
Takahiro T Fukuda,
Nobutake N Akiyama,
Masahiro M Ikegami,
Hitoshi H Takahashi,
Atsushi A Sasaki,
Hidehiro H Oka,
Takashi T Komori,
Yuko Y Tanaka,
Youichi Y Nakazato,
Jiro J Akimoto,
Masahiko M Tanaka,
Yoshikazu Y Okada and
Saburo S Saito
Abstract
We hypothesized that HIOMT could serve as a tumor marker of PPTs, and we investigated HIOMT localization and HIOMT expression in samples of normal human tissue and in PPTs, primitive neuroectodermal tumors, and medulloblastomas. In normal tissue, HIOMT was expressed in retinal cells, pineal parenchy...
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PMID: 20418777
PDF is available here.
Abstract
A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with ND. Haplotype analysis demonstrated that affected males in these two families shared the same ND-linked haplotype, suggesting a common origin for this novel mutation. The previously reported p.Arg1...
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PMID: 20491809
PDF is available here.
Abstract
We show that Magoh, a component of the exon junction complex (EJC) that binds RNA, controls mouse cerebral cortical size by regulating NSC division. Magoh haploinsufficiency causes microcephaly because of INP depletion and neuronal apoptosis. Defective mitosis underlies these phenotypes, as depletio...
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PMID: 20364144
PDF is available here.
Abstract
Stargardt-like macular degeneration (STGD3) is an early onset, autosomal dominant macular degeneration. STGD3 is characterized by a progressive pathology, the loss of central vision, atrophy of the retinal pigment epithelium, and accumulation of lipofuscin, clinical features that are also characteri...
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PMID: 20096366
PDF is available here.
Abstract
Our data suggest that MYOC overexpression is not a cause or an effect of intraocular pressure elevation and that MYOC itself is not associated with OAG....
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PMID: 20447966
PDF is available here.
Abstract
Six novel missense mutations (Thr2Asn, Leu75Phe, Ser144Asn, Arg255Trp, Pro297Thr, and Asp301Gly) and 1 previously reported mutation (Arg218Cys) were identified. Each family was found to have a unique BEST1 mutation that segregated with the disease. Two of the six novel mutations are located within t...
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PMID: 20057343
PDF is available here.
Abstract
Present evidence indicates that the XAP-1 antigen is Grp78, a protein that has been previously documented in the interphotoreceptor matrix surrounding cones....
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PMID: 20042652
PDF is available here.
Abstract
Variations of macular microstructures were observed among LCA patients with different genotypes. Disorganization of retinal lamellar structure was generally age related. Preservation of retinal microanatomic structures may not be associated with better visual acuity....
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PMID: 19959640
PDF is available here.
Abstract
We examined the role of the Pax6 protein in regeneration. In zebrafish, there are two Pax6 proteins, one encoded by the pax6a gene and the other encoded by the pax6b gene. We intravitreally injected and electroporated morpholinos that were complementary to either the pax6a or pax6b mRNA to knockdown...
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PMID: 20152834
PDF is available here.
Abstract
We provide evidence that Norrin has distinct neuroprotective properties that are independent from its effects on vascular development. The function of Norrin was investigated in a mouse model of excitotoxic retinal ganglion cell (RGC) damage after intravitreal injection of NMDA, and in cultured Mül...
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PMID: 20427659
PDF is available here.
Abstract
The mGJA8 gene and wGJA8 gene are cloned successfully, and pEGFP-N1-mGJA8 and pEGFP-N1-mGJA8 fusion protein can be expressed in COS7 cells, which establish the foundation for further studying the mechanism of this congenital inherited nuclear cataract family....
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PMID: 20646529
PDF is available here.
Abstract
We perform a novel method in this study for the expression and purification of recombinant PEDF34 in E. coli, and make it convenient, soluble and high yield to obtain this small peptide of PEDF. Human PEDF34 gene was cloned into the fusion-protein expression vector pGEX-4T-1, and the recombinant pla...
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PMID: 20221677
PDF is available here.
Abstract
We summarize structural features of PEDF that could affect various target organs such as blood vessels, tumors, and the central nervous system. In addition, since PEDF is recently identified as a regulator for glucose and lipid metabolism, we also discuss PEDF structures specially related to insulin...
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PMID: 20236052
PDF is available here.