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- Blasco, Helene, et al.
(författare)
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A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS
- 2013
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Ingår i: Human Mutation. - : Wiley-Blackwell. - 1059-7794 .- 1098-1004. ; 34:7, s. 953-960
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Tidskriftsartikel (refereegranskat)abstract
- The dihydropyrimidinase-like 3 (DPYSL3) or Collapsin Response Mediator Protein 4a (CRMP4a) expression is modified in neurodegeneration and is involved in several ALS-associated pathways including axonal transport, glutamate excitotoxicity, and oxidative stress. The objective of the study was to analyze CRMP4 as a risk factor for ALS. We analyzed the DPYSL3/CRMP4 gene in French ALS patients (n=468) and matched-controls (n=394). We subsequently examined a variant in a Swedish population (184 SALS, 186 controls), and evaluated its functional effects on axonal growth and survival in motor neuron cell culture. The rs147541241:A>G missense mutation occurred in higher frequency among French ALS patients (odds ratio=2.99) but the association was not confirmed in the Swedish population. In vitro expression of mutated DPYSL3 in motor neurons reduced axonal growth and accelerated cell death compared with wild type protein. Thus, the association between the rs147541241 variant and ALS was limited to the French population, highlighting the geographic particularities of genetic influences (risks, contributors). The identified variant appears to shorten motor neuron survival through a detrimental effect on axonal growth and CRMP4 could act as a key unifier in transduction pathways leading to neurodegeneration through effects on early axon development.
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| 2. |
- Lawson, Kellen, et al.
(författare)
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SCExAO/CHARIS Near-infrared Integral Field Spectroscopy of the HD 15115 Debris Disk
- 2020
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Ingår i: Astronomical Journal. - : American Astronomical Society. - 0004-6256 .- 1538-3881. ; 160:4
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Tidskriftsartikel (refereegranskat)abstract
- We present new, near-infrared (1.1-2.4 mu m) high-contrast imaging of the debris disk around HD 15115 with the Subaru Coronagraphic Extreme Adaptive Optics (SCExAO) system coupled with the Coronagraphic High Angular Resolution Imaging Spectrograph (CHARIS). The SCExAO/CHARIS resolves the disk down to rho similar to 02 (r(proj) similar to 10 au), a factor of similar to 3-5 smaller than previous recent studies. We derive a disk position angle of PA similar to 2794-2805 and an inclination ofi similar to 853-86.2. While recent SPHERE/IRDIS imagery of the system could suggest a significantly misaligned two-ring disk geometry, CHARIS imagery does not reveal conclusive evidence for this hypothesis. Moreover, optimizing models of both one- and two-ring geometries using differential evolution, we find that a single ring having a Hong-like scattering phase function matches the data equally well within the CHARIS field of view (rho less than or similar to 1 ''). The disk's asymmetry, well evidenced at larger separations, is also recovered; the west side of the disk appears, on average, around 0.4 mag brighter across the CHARIS bandpass between 025 and 1 ''. Comparing Space Telescope Imaging Spectrograph (STIS) 50CCD optical photometry (2000-10500 A) with CHARIS near-infrared photometry, we find a red (STIS/50CCD-CHARIS broadband) color for both sides of the disk throughout the 04-1 '' region of overlap, in contrast to the blue color reported at similar wavelengths for regions exterior to similar to 2 ''. Further, this color may suggest a smaller minimum grain size than previously estimated at larger separations. Finally, we provide constraints on planetary companions and discuss possible mechanisms for the observed inner disk flux asymmetry and color.
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