YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Franco, Elisa De; Lytrivi, Maria; Ibrahim, Halijah; Montaser, Hossam; Mn, Wakeling; Fantuzzi, Federica; Patel, Kalyani; Demarez, Céline; Cai, Yujun; Igoillo-Esteve, M; Cristina, Carolina; Lithovius,; Vihinen, H; Jokitalo, Eija; Tw, Laver; Mb, Johnson; Sawatani, Toshiaki; Shakeri, Hadis; Pachera, Nathalie; Haliloğlu, Belma; Mn, Ozbek; Ünal, E.B.R.U. Türkoglu; Yıldırım, Ruken; Godbole, T; Yıldız, Meral; Aydın, Bünyamin; Bilheu, Angéline; Suzuki, Ikuo; Flanagan, SE; Vanderhaeghen, Pierre; Senee,; Julier, Cécile; Marchetti, Piero; Eizirik, DL; Ellard, Sian; Saarimäki-Vire, Jonna; Otonkoski, Timo; Cnop, M.; Hattersley, Andrew T.

doi:10.1530/ey.18.2.11

Cited by 6 publications

(10 citation statements)

References 23 publications

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“…This may contrast with findings in 5xFAD at the intermediate age (6 m.o. ), where the BBB permeability was unchanged toward NaFluo (Marottoli et al, 2017;Ries et al, 2021).…”

Section: Discussionmentioning

confidence: 95%

“…The traditional view holds that the dysregulation of the blood-brain barrier (BBB) and cerebral blood flow (CBF) in AD is strongly associated with Aβ (Hartz et al, 2012;Kook et al, 2012;Iadecola, 2017;Park et al, 2017;Sweeney et al, 2018a;Nortley et al, 2019;Wang et al, 2021;Nehra et al, 2022). However, this view is met by contrasting findings showing no pathological BBB leakage both in preclinical models of AD (Klohs et al, 2013;Bien-Ly et al, 2015;Marottoli et al, 2017;Gustafsson et al, 2018;Ries et al, 2021), and in patients (Profaci et al, 2020). Consequently, the contribution of Aβ to vascular dysfunction is debatable, and a more detailed characterization of the effects of Aβ burden on cerebral vasculature is needed to clarify the issue.…”

Section: Introductionmentioning

confidence: 99%

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Preserved blood-brain barrier and neurovascular coupling in female 5xFAD model of Alzheimer’s disease

Жуков

Soylu-Kucharz

et al. 2023

Front. Aging Neurosci.

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IntroductionDysfunction of the cerebral vasculature is considered one of the key components of Alzheimer’s disease (AD), but the mechanisms affecting individual brain vessels are poorly understood.MethodsHere, using in vivo two-photon microscopy in superficial cortical layers and ex vivo imaging across brain regions, we characterized blood–brain barrier (BBB) function and neurovascular coupling (NVC) at the level of individual brain vessels in adult female 5xFAD mice, an aggressive amyloid-β (Aβ) model of AD.ResultsWe report a lack of abnormal increase in adsorptive-mediated transcytosis of albumin and preserved paracellular barrier for fibrinogen and small molecules despite an extensive load of Aβ. Likewise, the NVC responses to somatosensory stimulation were preserved at all regulatory segments of the microvasculature: penetrating arterioles, precapillary sphincters, and capillaries. Lastly, the Aβ plaques did not affect the density of capillary pericytes.ConclusionOur findings provide direct evidence of preserved microvascular function in the 5xFAD mice and highlight the critical dependence of the experimental outcomes on the choice of preclinical models of AD. We propose that the presence of parenchymal Aβ does not warrant BBB and NVC dysfunction and that the generalized view that microvascular impairment is inherent to Aβ aggregation may need to be revised.

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“…This may contrast with findings in 5xFAD at the intermediate age (6 m.o. ), where the BBB permeability was unchanged toward NaFluo (Marottoli et al, 2017;Ries et al, 2021).…”

Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Preserved blood-brain barrier and neurovascular coupling in female 5xFAD model of Alzheimer’s disease

Жуков

Soylu-Kucharz

et al. 2023

Front. Aging Neurosci.

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“…Finally, as illustrated in Figure 3d, the ICP-RIE induced surface shows a broad yellow luminescence (YL) band near 550 nm that is mostly related to Ga vacancy, impurity, and/or vacancy-impurity complexes [32][33]. The YL band disappears after TMAH treatment, i.e., the ICP-RIE-induced surface damage is effectively etched by the TMAH treatment.…”

Section: Influence Of the Tmah On Iqe And Non-radiative Recombinationmentioning

confidence: 96%

Impact of Sidewall Conditions on Internal Quantum Efficiency and Light Extraction Efficiency of Micro‐LEDs

Park

Pristovsek

Cai

et al. 2023

Advanced Optical Materials

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The sidewall condition is a key factor determining the performance of micro-light emitting diodes (μLEDs). In this study, we prepared equilateral triangular III-nitride blue μLEDs with exclusively m-plane sidewall surfaces to confirm the impact of sidewall conditions. It was found that inductively coupled plasma-reactive ion etching (ICP-RIE) caused surface damages to the sidewall and resulted in rough surface morphology. As confirmed by time-resolved photoluminescence (TRPL) and X-ray photoemission spectroscopy (XPS), tetramethylammonium hydroxide (TMAH) eliminated the etching damage and flattened the sidewall surface. After ICP-RIE, 100 µm 2 -micro-LEDs (µLEDs) yielded higher external quantum efficiency (EQE) than 400 µm 2 -µLEDs. However, after TMAH treatment, the peak EQE of 400 µm 2 -µLEDs increased by around 10% in the low current regime, whereas that of 100 µm 2 -µLEDs slightly decreased by around 3%. The EQE of the 100 µm 2 -µLED decreased after TMAH treatment although the internal quantum efficiency (IQE) increased. Further, the IQE of the 100 µm 2 -µLEDs before and after TMAH treatment was insignificant at temperatures below 150 K, above which it became considerable. Based on PL, XPS, scanning transmission electron microscopy, and scanning electron microscopy results, mechanisms for the size dependence of the EQE of µLEDs are explained in terms of non-radiative recombination rate and light extraction.

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“…35 As shown in Figure 4e, the binding energies at 161.4 and 162.5 eV can be identified as S 2p 3/2 and S 2p 1/2 , which correspond to S 2− ; the binding energies at 367.8 and 373.9 eV (Figure 4f) correspond to Ag 3d 5/2 and Ag 3d 3/2 , respectively. 25,36,37 According to previous researches, 38,39 it can be clarified that the valence state of Ag in the composite is Ag 1+ . In conclusion, the Ag 2 S− 5a shows the photosensitivity of B i2 WO 6 and Ag 2 S−Bi 2 WO 6 composites to visible light.…”

Section: Sem and Eds Analysismentioning

confidence: 96%

Ag₂S Nanoparticles Supported on 3D Flower-Shaped Bi₂WO₆ Enhanced Visible Light Catalytic Degradation of Tetracycline

Dai,

Yang,

Tang

2023

ACS Omega

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A three-dimensional flower-shaped Bi2WO6 has been prepared by a hydrothermal procedure without the addition of an auxiliary agent and under neutral conditions with ultrapure water serving as solvent, and the Ag2S–Bi2WO6 composite with weight ratios of 5, 10, and 15% was prepared by a hydrothermal method. The crystallinity, morphology, mode of binding, and optical properties of the Ag2S–Bi2WO6 composite were characterized, the results of which showed that the composite had excellent dispersion, crystallinity, and purity. The composite with a weight ratio of 10% had the best photocatalytic performance, and the degradation rate of tetracycline reached 95.51% within 120 min, an increase of 27.35% over Bi2WO6. In experiments, some focus was given to the effect of the initial solution pH and the concentrations of humic acid and inorganic anions on the degradation efficiency. Based on free radical capture experiments and the semiconductor theory, the main active substances and mechanisms in the optical catalytic reaction process were studied, and speculation was given concerning the degradation pathway for the target pollutants. This study has conceived novel methods for the development of dual semiconductor systems consisting of a Ag NP composite and in doing so has provided new approaches for the development and photocatalysis for water pollution control.

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Cited by 6 publications

References 23 publications

Preserved blood-brain barrier and neurovascular coupling in female 5xFAD model of Alzheimer’s disease

Preserved blood-brain barrier and neurovascular coupling in female 5xFAD model of Alzheimer’s disease

Impact of Sidewall Conditions on Internal Quantum Efficiency and Light Extraction Efficiency of Micro‐LEDs

Ag₂S Nanoparticles Supported on 3D Flower-Shaped Bi₂WO₆ Enhanced Visible Light Catalytic Degradation of Tetracycline

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Cited by 6 publications

References 23 publications

Preserved blood-brain barrier and neurovascular coupling in female 5xFAD model of Alzheimer’s disease

Preserved blood-brain barrier and neurovascular coupling in female 5xFAD model of Alzheimer’s disease

Impact of Sidewall Conditions on Internal Quantum Efficiency and Light Extraction Efficiency of Micro‐LEDs

Ag2S Nanoparticles Supported on 3D Flower-Shaped Bi2WO6 Enhanced Visible Light Catalytic Degradation of Tetracycline

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Product

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About

Ag₂S Nanoparticles Supported on 3D Flower-Shaped Bi₂WO₆ Enhanced Visible Light Catalytic Degradation of Tetracycline