Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

Abstract:

:Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. We used model mice to demonstrate that low Glut1 protein arrests cerebral angiogenesis, resulting in a profound diminution of the brain microvasculature without compromising the blood-brain barrier. Studies to define the temporal requirements for Glut1 reveal that pre-symptomatic, AAV9-mediated repletion of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the protein late, during adulthood, is devoid of benefit. Still, treatment following symptom onset can be effective; Glut1 repletion in early-symptomatic mutants that have experienced sustained periods of low brain glucose nevertheless restores the cerebral microvasculature and ameliorates disease. Timely Glut1 repletion may thus constitute an effective treatment for Glut1 DS.

journal_name

Nat Commun

journal_title

Nature communications

authors

Tang M,Gao G,Rueda CB,Yu H,Thibodeaux DN,Awano T,Engelstad KM,Sanchez-Quintero MJ,Yang H,Li F,Li H,Su Q,Shetler KE,Jones L,Seo R,McConathy J,Hillman EM,Noebels JL,De Vivo DC,Monani UR

doi

10.1038/ncomms14152

subject

Has Abstract

pub_date

2017-01-20 00:00:00

pages

14152

issn

2041-1723

pii

ncomms14152

journal_volume

8

pub_type

杂志文章
  • Large spatial extension of the zero-energy Yu-Shiba-Rusinov state in a magnetic field.

    abstract::Various promising qubit concepts have been put forward recently based on engineered superconductor subgap states like Andreev bound states, Majorana zero modes or the Yu-Shiba-Rusinov (Shiba) states. The coupling of these subgap states via a superconductor strongly depends on their spatial extension and is an essentia...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-15322-9

    authors: Scherübl Z,Fülöp G,Moca CP,Gramich J,Baumgartner A,Makk P,Elalaily T,Schönenberger C,Nygård J,Zaránd G,Csonka S

    更新日期:2020-04-14 00:00:00

  • Disease risk scores for skin cancers.

    abstract::We trained and validated risk prediction models for the three major types of skin cancer- basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma-on a cross-sectional and longitudinal dataset of 210,000 consented research participants who responded to an online survey covering personal and family histo...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-20246-5

    authors: Fontanillas P,Alipanahi B,Furlotte NA,Johnson M,Wilson CH,23andMe Research Team.,Pitts SJ,Gentleman R,Auton A

    更新日期:2021-01-08 00:00:00

  • Selective N-terminal acylation of peptides and proteins with a Gly-His tag sequence.

    abstract::Methods for site-selective chemistry on proteins are in high demand for the synthesis of chemically modified biopharmaceuticals, as well as for applications in chemical biology, biosensors and more. Inadvertent N-terminal gluconoylation has been reported during expression of proteins with an N-terminal His tag. Here w...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-05695-3

    authors: Martos-Maldonado MC,Hjuler CT,Sørensen KK,Thygesen MB,Rasmussen JE,Villadsen K,Midtgaard SR,Kol S,Schoffelen S,Jensen KJ

    更新日期:2018-08-17 00:00:00

  • Efficient near-infrared up-conversion photoluminescence in carbon nanotubes.

    abstract::Photoluminescence phenomena normally obey Stokes' law of luminescence according to which the emitted photon energy is typically lower than its excitation counterparts. Here we show that carbon nanotubes break this rule under one-photon excitation conditions. We found that the carbon nanotubes exhibit efficient near-in...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms9920

    authors: Akizuki N,Aota S,Mouri S,Matsuda K,Miyauchi Y

    更新日期:2015-11-16 00:00:00

  • Collective dynamics of strain-coupled nanomechanical pillar resonators.

    abstract::Semiconductur nano- and micropillars represent a promising platform for hybrid nanodevices. Their ability to couple to a broad variety of nanomechanical, acoustic, charge, spin, excitonic, polaritonic, or electromagnetic excitations is utilized in fields as diverse as force sensing or optoelectronics. In order to full...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-13309-9

    authors: Doster J,Hoenl S,Lorenz H,Paulitschke P,Weig EM

    更新日期:2019-11-20 00:00:00

  • LRRFIP2 negatively regulates NLRP3 inflammasome activation in macrophages by promoting Flightless-I-mediated caspase-1 inhibition.

    abstract::The NLRP3 inflammasome is the most characterized inflammasome activated by cellular infection or stress, which is responsible for the maturation of proinflammatory cytokines IL-1β and IL-18. The precise molecular mechanism for negative regulation of NLRP3 inflammasome activation needs to be further defined. Here we id...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms3075

    authors: Jin J,Yu Q,Han C,Hu X,Xu S,Wang Q,Wang J,Li N,Cao X

    更新日期:2013-01-01 00:00:00

  • Coil-globule transitions drive discontinuous volume conserving deformation in locally restrained gels.

    abstract::The equilibrium volume of a thermoresponsive polymer gel changes dramatically across a temperature due to the coil-globule transitions of the polymers. When cofacially oriented nanosheets are embedded in such a gel, the composite gel deforms at the temperature, without changing the volume, and the response time is con...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-04533-w

    authors: Yamamoto T,Masubuchi Y,Doi M

    更新日期:2018-05-25 00:00:00

  • Regulation of miR-200c/141 expression by intergenic DNA-looping and transcriptional read-through.

    abstract::The miR-200 family members have been implicated in stress responses and ovarian tumorigenesis. Here, we find that miR-200c/141 transcription is intimately linked to the transcription of the proximal upstream gene PTPN6 (SHP1) in all physiological conditions tested. PTPN6 and miR-200c/141 are transcriptionally co-regul...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms9959

    authors: Batista L,Bourachot B,Mateescu B,Reyal F,Mechta-Grigoriou F

    更新日期:2016-01-04 00:00:00

  • Graphene etching on SiC grains as a path to interstellar polycyclic aromatic hydrocarbons formation.

    abstract::Polycyclic aromatic hydrocarbons as well as other organic molecules appear among the most abundant observed species in interstellar space and are key molecules to understanding the prebiotic roots of life. However, their existence and abundance in space remain a puzzle. Here we present a new top-down route to form pol...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms4054

    authors: Merino P,Švec M,Martinez JI,Jelinek P,Lacovig P,Dalmiglio M,Lizzit S,Soukiassian P,Cernicharo J,Martin-Gago JA

    更新日期:2014-01-01 00:00:00

  • Strain control of oxygen kinetics in the Ruddlesden-Popper oxide La1.85Sr0.15CuO4.

    abstract::Oxygen defect control has long been considered an important route to functionalizing complex oxide films. However, the nature of oxygen defects in thin films is often not investigated beyond basic redox chemistry. One of the model examples for oxygen-defect studies is the layered Ruddlesden-Popper phase La2-xSr x CuO4...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-017-02568-z

    authors: Meyer TL,Jacobs R,Lee D,Jiang L,Freeland JW,Sohn C,Egami T,Morgan D,Lee HN

    更新日期:2018-01-08 00:00:00

  • Imaging of fluorescence anisotropy during photoswitching provides a simple readout for protein self-association.

    abstract::Monitoring of protein oligomerization has benefited greatly from Förster Resonance Energy Transfer (FRET) measurements. Although donors and acceptors are typically fluorescent molecules with different spectra, homo-FRET can occur between fluorescent molecules of the same type if the emission spectrum overlaps with the...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-13843-6

    authors: Ojha N,Rainey KH,Patterson GH

    更新日期:2020-01-07 00:00:00

  • A mechanosensory receptor required for food texture detection in Drosophila.

    abstract::Textural properties provide information on the ingestibility, digestibility and state of ripeness or decay of sources of nutrition. Compared with our understanding of the chemosensory assessment of food, little is known about the mechanisms of texture detection. Here we show that Drosophila melanogaster can discrimina...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms14192

    authors: Sánchez-Alcañiz JA,Zappia G,Marion-Poll F,Benton R

    更新日期:2017-01-27 00:00:00

  • A metallic molybdenum dioxide with high stability for surface enhanced Raman spectroscopy.

    abstract::Compared with noble metals, semiconductors with surface plasmon resonance effect are another type of SERS substrate materials. The main obstacles so far are that the semiconducting materials are often unstable and easy to be further oxidized or decomposed by laser irradiating or contacting with corrosive substances. H...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms14903

    authors: Zhang Q,Li X,Ma Q,Zhang Q,Bai H,Yi W,Liu J,Han J,Xi G

    更新日期:2017-04-24 00:00:00

  • Molecular level detection and localization of mechanical damage in collagen enabled by collagen hybridizing peptides.

    abstract::Mechanical injury to connective tissue causes changes in collagen structure and material behaviour, but the role and mechanisms of molecular damage have not been established. In the case of mechanical subfailure damage, no apparent macroscale damage can be detected, yet this damage initiates and potentiates in patholo...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms14913

    authors: Zitnay JL,Li Y,Qin Z,San BH,Depalle B,Reese SP,Buehler MJ,Yu SM,Weiss JA

    更新日期:2017-03-22 00:00:00

  • Modeling early stage atherosclerosis in a primary human vascular microphysiological system.

    abstract::Novel atherosclerosis models are needed to guide clinical therapy. Here, we report an in vitro model of early atherosclerosis by fabricating and perfusing multi-layer arteriole-scale human tissue-engineered blood vessels (TEBVs) by plastic compression. TEBVs maintain mechanical strength, vasoactivity, and nitric oxide...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-19197-8

    authors: Zhang X,Bishawi M,Zhang G,Prasad V,Salmon E,Breithaupt JJ,Zhang Q,Truskey GA

    更新日期:2020-10-27 00:00:00

  • Emergent electric field control of phase transformation in oxide superlattices.

    abstract::Electric fields can transform materials with respect to their structure and properties, enabling various applications ranging from batteries to spintronics. Recently electrolytic gating, which can generate large electric fields and voltage-driven ion transfer, has been identified as a powerful means to achieve electri...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-14631-3

    authors: Yi D,Wang Y,van ʼt Erve OMJ,Xu L,Yuan H,Veit MJ,Balakrishnan PP,Choi Y,N'Diaye AT,Shafer P,Arenholz E,Grutter A,Xu H,Yu P,Jonker BT,Suzuki Y

    更新日期:2020-02-14 00:00:00

  • Scanning STED-FCS reveals spatiotemporal heterogeneity of lipid interaction in the plasma membrane of living cells.

    abstract::The interaction of lipids and proteins plays an important role in plasma membrane bioactivity, and much can be learned from their diffusion characteristics. Here we present the combination of super-resolution STED microscopy with scanning fluorescence correlation spectroscopy (scanning STED-FCS, sSTED-FCS) to characte...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms6412

    authors: Honigmann A,Mueller V,Ta H,Schoenle A,Sezgin E,Hell SW,Eggeling C

    更新日期:2014-11-20 00:00:00

  • Resonant nanostructures for highly confined and ultra-sensitive surface phonon-polaritons.

    abstract::Plasmonics on metal-dielectric interfaces was widely seen as the main route for miniaturization of components and interconnect of photonic circuits. However recently, ultra-confined surface phonon-polaritonics in high-index chalcogenide films of nanometric thickness has emerged as an important alternative to plasmonic...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-15767-y

    authors: Dubrovkin AM,Qiang B,Salim T,Nam D,Zheludev NI,Wang QJ

    更新日期:2020-04-20 00:00:00

  • Protecting tropical forests from the rapid expansion of rubber using carbon payments.

    abstract::Expansion of Hevea brasiliensis rubber plantations is a resurgent driver of deforestation, carbon emissions, and biodiversity loss in Southeast Asia. Southeast Asian rubber extent is massive, equivalent to 67% of oil palm, with rapid further expansion predicted. Results-based carbon finance could dis-incentivise fores...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-03287-9

    authors: Warren-Thomas EM,Edwards DP,Bebber DP,Chhang P,Diment AN,Evans TD,Lambrick FH,Maxwell JF,Nut M,O'Kelly HJ,Theilade I,Dolman PM

    更新日期:2018-03-02 00:00:00

  • A machine learning-based chemoproteomic approach to identify drug targets and binding sites in complex proteomes.

    abstract::Chemoproteomics is a key technology to characterize the mode of action of drugs, as it directly identifies the protein targets of bioactive compounds and aids in the development of optimized small-molecule compounds. Current approaches cannot identify the protein targets of a compound and also detect the interaction s...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-18071-x

    authors: Piazza I,Beaton N,Bruderer R,Knobloch T,Barbisan C,Chandat L,Sudau A,Siepe I,Rinner O,de Souza N,Picotti P,Reiter L

    更新日期:2020-08-21 00:00:00

  • LNK suppresses interferon signaling in melanoma.

    abstract::LNK (SH2B3) is a key negative regulator of JAK-STAT signaling which has been extensively studied in malignant hematopoietic diseases. We found that LNK is significantly elevated in cutaneous melanoma; this elevation is correlated with hyperactive signaling of the RAS-RAF-MEK pathway. Elevated LNK enhances cell growth ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-09711-y

    authors: Ding LW,Sun QY,Edwards JJ,Fernández LT,Ran XB,Zhou SQ,Scolyer RA,Wilmott JS,Thompson JF,Doan N,Said JW,Venkatachalam N,Xiao JF,Loh XY,Pein M,Xu L,Mullins DW,Yang H,Lin DC,Koeffler HP

    更新日期:2019-05-20 00:00:00

  • Charge stripe order near the surface of 12-percent doped La₂-xSrxCuO₄.

    abstract::A collective order of spin and charge degrees of freedom into stripes has been predicted to be a possible ground state of hole-doped CuO(2) planes, which are the building blocks of high-temperature superconductors. In fact, stripe-like spin and charge order has been observed in various layered cuprate systems. For the...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms2019

    authors: Wu HH,Buchholz M,Trabant C,Chang CF,Komarek AC,Heigl F,Zimmermann MV,Cwik M,Nakamura F,Braden M,Schüßler-Langeheine C

    更新日期:2012-01-01 00:00:00

  • Nanoscale memristive radiofrequency switches.

    abstract::Radiofrequency switches are critical components in wireless communication systems and consumer electronics. Emerging devices include switches based on microelectromechanical systems and phase-change materials. However, these devices suffer from disadvantages such as large physical dimensions and high actuation voltage...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms8519

    authors: Pi S,Ghadiri-Sadrabadi M,Bardin JC,Xia Q

    更新日期:2015-06-25 00:00:00

  • Methylation of Salmonella Typhimurium flagella promotes bacterial adhesion and host cell invasion.

    abstract::The long external filament of bacterial flagella is composed of several thousand copies of a single protein, flagellin. Here, we explore the role played by lysine methylation of flagellin in Salmonella, which requires the methylase FliB. We show that both flagellins of Salmonella enterica serovar Typhimurium, FliC and...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-15738-3

    authors: Horstmann JA,Lunelli M,Cazzola H,Heidemann J,Kühne C,Steffen P,Szefs S,Rossi C,Lokareddy RK,Wang C,Lemaire L,Hughes KT,Uetrecht C,Schlüter H,Grassl GA,Stradal TEB,Rossez Y,Kolbe M,Erhardt M

    更新日期:2020-04-24 00:00:00

  • Basolateral and central amygdala differentially recruit and maintain dorsolateral striatum-dependent cocaine-seeking habits.

    abstract::In the development of addiction, drug seeking becomes habitual and controlled by drug-associated cues, and the neural locus of control over behaviour shifts from the ventral to the dorsolateral striatum. The neural mechanisms underlying this functional transition from recreational drug use to drug-seeking habits are u...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms10088

    authors: Murray JE,Belin-Rauscent A,Simon M,Giuliano C,Benoit-Marand M,Everitt BJ,Belin D

    更新日期:2015-12-14 00:00:00

  • Thermotropic phase boundaries in classic ferroelectrics.

    abstract::High-performance piezoelectrics are lead-based solid solutions that exhibit a so-called morphotropic phase boundary, which separates two competing phases as a function of chemical composition; as a consequence, an intermediate low-symmetry phase with a strong piezoelectric effect arises. In search for environmentally ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms4172

    authors: Lummen TT,Gu Y,Wang J,Lei S,Xue F,Kumar A,Barnes AT,Barnes E,Denev S,Belianinov A,Holt M,Morozovska AN,Kalinin SV,Chen LQ,Gopalan V

    更新日期:2014-01-01 00:00:00

  • Using apelin-based synthetic Notch receptors to detect angiogenesis and treat solid tumors.

    abstract::Angiogenesis is a necessary process for solid tumor growth. Cellular markers for endothelial cell proliferation are potential targets for identifying the vasculature of tumors in homeostasis. Here we customize the behaviors of engineered cells to recognize Apj, a surface marker of the neovascular endothelium, using sy...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-15729-4

    authors: Wang Z,Wang F,Zhong J,Zhu T,Zheng Y,Zhao T,Xie Q,Ma F,Li R,Tang Q,Xu F,Tian X,Zhu J

    更新日期:2020-05-01 00:00:00

  • The Trithorax protein Ash1L promotes myoblast fusion by activating Cdon expression.

    abstract::Myoblast fusion (MF) is required for muscle growth and repair, and its alteration contributes to muscle diseases. The mechanisms governing this process are incompletely understood, and no epigenetic regulator has been previously described. Ash1L is an epigenetic activator belonging to the Trithorax group of proteins a...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-07313-8

    authors: Castiglioni I,Caccia R,Garcia-Manteiga JM,Ferri G,Caretti G,Molineris I,Nishioka K,Gabellini D

    更新日期:2018-11-28 00:00:00

  • Single-trial dynamics of motor cortex and their applications to brain-machine interfaces.

    abstract::Increasing evidence suggests that neural population responses have their own internal drive, or dynamics, that describe how the neural population evolves through time. An important prediction of neural dynamical models is that previously observed neural activity is informative of noisy yet-to-be-observed activity on s...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms8759

    authors: Kao JC,Nuyujukian P,Ryu SI,Churchland MM,Cunningham JP,Shenoy KV

    更新日期:2015-07-29 00:00:00

  • Oxidation-boosted charge trapping in ultra-sensitive van der Waals materials for artificial synaptic features.

    abstract::Exploitation of the oxidation behaviour in an environmentally sensitive semiconductor is significant to modulate its electronic properties and develop unique applications. Here, we demonstrate a native oxidation-inspired InSe field-effect transistor as an artificial synapse in device level that benefits from the boost...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-16766-9

    authors: Yang FS,Li M,Lee MP,Ho IY,Chen JY,Ling H,Li Y,Chang JK,Yang SH,Chang YM,Lee KC,Chou YC,Ho CH,Li W,Lien CH,Lin YF

    更新日期:2020-06-12 00:00:00