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    SLC17A8 solute carrier family 17 member 8 [ Homo sapiens (human) ]

    Gene ID: 246213, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.

    The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.
    Qi Y, Gong S, Liu K, Song Y.

    01/29/2022
    Targeting Vesicular Glutamate Transporter Machinery: Implications on Metabotropic Glutamate Receptor 5 Signaling and Behavior.

    Targeting Vesicular Glutamate Transporter Machinery: Implications on Metabotropic Glutamate Receptor 5 Signaling and Behavior.
    Ibrahim KS, Abd-Elrahman KS, El Mestikawy S, Ferguson SSG.

    11/21/2020
    Novel pathogenic splicing mutation in SLC17A8 gene identified in a family with hearing loss.

    Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.
    Ryu N, Lee S, Park HJ, Lee B, Kwon TJ, Bok J, Park CI, Lee KY, Baek JI, Kim UK.

    09/23/2017
    A point mutation in VGLUT3 dramatically reduces its expression in synaptic terminals without altering its function.

    Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles.
    Ramet L, Zimmermann J, Bersot T, Poirel O, De Gois S, Silm K, Sakae DY, Mansouri-Guilani N, Bourque MJ, Trudeau LE, Pietrancosta N, Daumas S, Bernard V, Rosenmund C, El Mestikawy S., Free PMC Article

    04/22/2017
    The results of this study identify VGLUT3 as an unexpected regulator of drug abuse.

    The absence of VGLUT3 predisposes to cocaine abuse by increasing dopamine and glutamate signaling in the nucleus accumbens.
    Sakae DY, Marti F, Lecca S, Vorspan F, Martín-García E, Morel LJ, Henrion A, Gutiérrez-Cuesta J, Besnard A, Heck N, Herzog E, Bolte S, Prado VF, Prado MA, Bellivier F, Eap CB, Crettol S, Vanhoutte P, Caboche J, Gratton A, Moquin L, Giros B, Maldonado R, Daumas S, Mameli M, Jamain S, El Mestikawy S.

    08/6/2016
    The results from our study suggest that the p.M206Nfs*4 mutation in the SLC17A8 gene is likely a pathogenic mutation that causes autosomal dominant non-syndromic hearing loss.

    Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.
    Ryu N, Sagong B, Park HJ, Kim MA, Lee KY, Choi JY, Kim UK., Free PMC Article

    05/14/2016
    The absence of VGLUT3 in transgenic mice leads to an up-regulation of the midbrain dopamine system and ameliorates motor dysfunction in a model of Parkinson's disease.

    Loss of VGLUT3 Produces Circadian-Dependent Hyperdopaminergia and Ameliorates Motor Dysfunction and l-Dopa-Mediated Dyskinesias in a Model of Parkinson's Disease.
    Divito CB, Steece-Collier K, Case DT, Williams SP, Stancati JA, Zhi L, Rubio ME, Sortwell CE, Collier TJ, Sulzer D, Edwards RH, Zhang H, Seal RP., Free PMC Article

    02/27/2016
    SLC17A8 encodes vesicular glutamate transporter-3, VGLUT3 and its impairment has a role in nonsyndromic deafness DFNA25 and inner hair cell dysfunction

    Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
    Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL., Free PMC Article

    01/21/2010
    VGLUT3 immunoreactivity covered only a limited portion of the possible Glu-ergic pathways in the human fetal small intestine.

    Developmental pattern of three vesicular glutamate transporters in the myenteric plexus of the human fetal small intestine.
    Linke N, Bódi N, Resch BE, Fekete E, Bagyánszki M.

    01/21/2010
    Docking and homology modeling explain the inhibition of VGLUT3.

    Docking and homology modeling explain inhibition of the human vesicular glutamate transporters.
    Almqvist J, Huang Y, Laaksonen A, Wang DN, Hovmöller S., Free PMC Article

    01/21/2010
    human vesicular glutamate transporter 3 was cloned, shows 72% identity to both hVGLUT1 and hVGLUT2, and its expression in brain overlaps with hVGLUT1 and hVGLUT2

    Molecular cloning and functional characterization of human vesicular glutamate transporter 3.
    Takamori S, Malherbe P, Broger C, Jahn R., Free PMC Article

    01/21/2010
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