Identification of the RP1 and RP10 (IMPDH1) Genes Causing Autosomal Dominant RP

Daiger, Stephen P.; Sullivan, Lori S.; Bowne, Sara J.; Kennan, Avril; Humphries, Peter; Birch, David G.; Heckenlively, John R.

doi:10.1007/978-1-4615-0067-4_1

Cited by 6 publications

(4 citation statements)

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“…Sesquiterpene lactones such as helenalin seem likely to function in this manner, 199 as do the bastadins. 200 Isolation of an IMPDH inhibitor (20) from tunicate extracts yielded a disulfidecontaining alkaloid with an IC 50 ) 0.015 µg/mL; inhibition was relieved by dithiothreitol, suggesting that this compound formed a disulfide with the catalytic cysteine. 201 Halicyclamine A of IMPDH was originally discovered in a screen for hIMPDH2 inhibitors 202 and was recently rediscovered in a screen for antituberculosis activity.…”

Section: Other Non-nucleoside Natural Product Inhibitorsmentioning

confidence: 99%

“…Earlier reviews on this topic include refs − . Several more focused reviews have addressed IMPDH as a drug target for immunosuppressive, cancer, , antiviral, and antimicrobial chemotherapy, specific classes of IMPDH inhibitors, advances in structure and mechanism, and the role of IMPDH in retinal disease. , The reader is also directed to a collection of papers from the 2000 meeting Inosine monophosphate dehydrogenase: a major therapeutic target…”

Section: Introduction and Scopementioning

confidence: 99%

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IMP Dehydrogenase: Structure, Mechanism, and Inhibition

2009

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Section: Other Non-nucleoside Natural Product Inhibitorsmentioning

confidence: 99%

Section: Introduction and Scopementioning

confidence: 99%

IMP Dehydrogenase: Structure, Mechanism, and Inhibition

2009

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“…Inherited retinal degeneration (RD), including retinitis pigmentosa (RP), is characterized by selective retinal photoreceptor cell degeneration and apoptosis [ 1 ] [ 2 ]. RP is one of the prevalent blinding diseases in developed countries; currently, there is no comprehensive treatment to cure RP [ 3 , 4 ]. More than 100 genes have been reported to cause RP [ 3 ]; therefore, it is necessary to explore the broadly shared mechanisms of RP rather than the individual mutations.…”

Section: Introductionmentioning

confidence: 99%

“…RP is one of the prevalent blinding diseases in developed countries; currently, there is no comprehensive treatment to cure RP [ 3 , 4 ]. More than 100 genes have been reported to cause RP [ 3 ]; therefore, it is necessary to explore the broadly shared mechanisms of RP rather than the individual mutations.…”

Section: Introductionmentioning

confidence: 99%

Activation of liver X receptor delayed the retinal degeneration of rd1 mice through modulation of the immunological function of glia

Sun

Chen

et al. 2017

Oncotarget

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Retinal degeneration (RD), including retinitis pigmentosa (RP), is an inherited eye disease characterized by progressive degeneration of photoreceptors. Recently, immune cells, including microglia, Müller cells and astrocytes, in degenerative retina are demonstrated to play key roles in the development of RD and can be used as potential therapeutic targets. Liver X receptors (LXRs) are important immuno-inflammatory response transcription factors that have been reported to be a new potential therapeutic drug target for neurodegenerative diseases. However, the potential therapeutic utility of LXRs for RP has not been evaluated. In the present study, Pde6β (rd1) mice received intraperitoneal injections of T0901317 (T0, 50 mg/kg/d) or vehicle (2% DMSO) for 7 days with age-matched C57/BL6 mice as controls. The effect of T0 was examined by quantitating photoreceptor apoptosis, microglial density and the expression of inflammatory mediators; the underlying mechanisms were then explored with a microarray assay. T0 markedly delayed apoptosis of the photoreceptors, partially through suppressing the activation of microglia and the gliosis of Müller cells, and decreased the expression levels of IL-6, iNOS, COX-2 and ENG in rd1 mice; as a result, the visual function of T0-treated rd1 mice measured with electroretinograms (ERG) was preserved for a longer time than that of vehicle-treated rd1 mice. The microarray assay showed that the Janus kinase/Signal Transducer and Activator of Transcription (JAK-STAT) signaling pathway was significantly affected in the retina of rd1 mice with T0 treatment. Our data suggested that T0 modulated the immunologic function of glia cells in the degenerative retina through the JAK3/STAT pathway and delayed the apoptosis of photoreceptors.

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