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    NAGA alpha-N-acetylgalactosaminidase [ Homo sapiens (human) ]

    Gene ID: 4668, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Could low alpha-N-acetylgalactosaminidase plasma concentration cause schizophrenia?

    Could low α-N-acetylgalactosaminidase plasma concentration cause schizophrenia?
    Yılmaz S, Öner P.

    02/11/2023
    Silencing of alpha-N-acetylgalactosaminidase in the gastric cancer cells amplified cell death and attenuated migration, while the multidrug resistance remained unchanged.

    Silencing of α-N-acetylgalactosaminidase in the gastric cancer cells amplified cell death and attenuated migration, while the multidrug resistance remained unchanged.
    Jafari M, Rahimi N, Jami MS, Hashemzadeh Chaleshtori M, Elahian F, Mirzaei SA.

    04/16/2022
    A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.

    A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.
    Li Y, Ma C, Li W, Yang Y, Li X, Liu J, Wang J, Li S, Liu Y, Li K, Li J, Huang D, Chen R, Lv L, Li M, Luo XJ.

    03/19/2022
    A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

    A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
    Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR.

    10/10/2020
    results demonstrate the utility of eQTL mapping in the identification of novel asthma genes and provide evidence for the importance of FADS2, NAGA, and F13A1 in the pathogenesis of asthma.

    A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes.
    Sharma S, Zhou X, Thibault DM, Himes BE, Liu A, Szefler SJ, Strunk R, Castro M, Hansel NN, Diette GB, Vonakis BM, Adkinson NF Jr, Avila L, Soto-Quiros M, Barraza-Villareal A, Lemanske RF Jr, Solway J, Krishnan J, White SR, Cheadle C, Berger AE, Fan J, Boorgula MP, Nicolae D, Gilliland F, Barnes K, London SJ, Martinez F, Ober C, Celedón JC, Carey VJ, Weiss ST, Raby BA., Free PMC Article

    02/21/2015
    the active sites of human lysosomal enzymes alpha-galactosidase and alpha-N-acetylgalactosaminidase have interconvertible specificites

    Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases.
    Tomasic IB, Metcalf MC, Guce AI, Clark NE, Garman SC., Free PMC Article

    08/16/2010
    Use of a modified NAGA in the development of enzyme replacement therapy for Fabry disease is reported.

    Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.
    Tajima Y, Kawashima I, Tsukimura T, Sugawara K, Kuroda M, Suzuki T, Togawa T, Chiba Y, Jigami Y, Ohno K, Fukushige T, Kanekura T, Itoh K, Ohashi T, Sakuraba H., Free PMC Article

    01/21/2010
    The active site of human alpha-NAGAL has anomeric selectivity for its catalytic product and the structure reveals a novel active-site rearrangement upon hexose ligand binding.

    The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
    Clark NE, Garman SC., Free PMC Article

    01/21/2010
    Specific enzymatic activity of serum alpha-N-acetylgalactosaminidase was significantly increased in stage III melanoma patients, but not in early stages.

    Serum proteomic profile of cutaneous malignant melanoma and relation to cancer progression: association to tumor derived alpha-N-acetylgalactosaminidase activity.
    Greco M, Mitri MD, Chiriacò F, Leo G, Brienza E, Maffia M.

    01/21/2010
    NAGA mutation p.D217N (c.649G>A) in exon 6 and mutation p.E325K (c.973G>A) in exon 8 may have roles in alpha-N-acetylgalactosaminidase deficiency with cardiomyopathy

    A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.
    Chabás A, Duque J, Gort L.

    01/21/2010
    Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation.

    Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation.
    Mohamad SB, Nagasawa H, Uto Y, Hori H.

    01/21/2010
    Structural analysis revealed biochemical and phenotypic differences in these Kanzaki patients with the R329Q and R329W mutation.

    Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes.
    Kanekura T, Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Hirabayashi Y, Yoshii N, Fukushige T, Kanzaki T.

    01/21/2010
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