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  • American Physical Society (APS)  (1)
  • Oxford University Press  (1)
  • 1
    Publication Date: 2015-06-11
    Description: Author(s): X. M. Chen, A. J. Miller, C. Nugroho, G. A. de la Peña, Y. I. Joe, A. Kogar, J. D. Brock, J. Geck, G. J. MacDougall, S. L. Cooper, E. Fradkin, D. J. Van Harlingen, and P. Abbamonte We report temperature-dependent transport and x-ray diffraction measurements of the influence of Ti hole doping on the charge density wave (CDW) in 1 T − Ta 1 − x Ti x S 2 . Confirming past studies, we find that even trace impurities eliminate the low-temperature commensurate (C) phase in this system. Surprisi... [Phys. Rev. B 91, 245113] Published Mon Jun 08, 2015
    Keywords: Electronic structure and strongly correlated systems
    Print ISSN: 1098-0121
    Electronic ISSN: 1095-3795
    Topics: Physics
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  • 2
    Publication Date: 2015-07-07
    Description: Human RPE65 mutations cause a spectrum of blinding retinal dystrophies from severe early-onset disease to milder manifestations. The RPE65 P25L missense mutation, though having 〈10% of wild-type (WT) activity, causes relatively mild retinal degeneration. To better understand these mild forms of RPE65 -related retinal degeneration, and their effect on cone photoreceptor survival, we generated an Rpe65 /P25L knock-in (KI/KI) mouse model. We found that, when subject to the low-light regime (~100 lux) of regular mouse housing, homozygous Rpe65 /P25L KI/KI mice are morphologically and functionally very similar to WT siblings. While mutant protein expression is decreased by over 80%, KI/KI mice retinae retain comparable 11- cis -retinal levels with WT. Consistently, the scotopic and photopic electroretinographic (ERG) responses to single-flash stimuli also show no difference between KI/KI and WT mice. However, the recovery of a-wave response following moderate visual pigment bleach is delayed in KI/KI mice. Importantly, KI/KI mice show significantly increased resistance to high-intensity (20 000 lux for 30 min) light-induced retinal damage (LIRD) as compared with WT, indicating impaired rhodopsin regeneration in KI/KI. Taken together, the Rpe65 /P25L mutant produces sufficient chromophore under normal conditions to keep opsins replete and thus manifests a minimal phenotype. Only when exposed to intensive light is this hypomorphic mutation manifested physiologically, as its reduced expression and catalytic activity protects against the successive cycles of opsin regeneration underlying LIRD. These data also help define minimal requirements of chromophore for photoreceptor survival in vivo and may be useful in assessing a beneficial therapeutic dose for RPE65 gene therapy in humans.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
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