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    GM2A ganglioside GM2 activator [ Homo sapiens (human) ]

    Gene ID: 2760, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.

    Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
    İnci A, Cengiz Ergin FB, Biberoğlu G, Okur İ, Ezgü FS, Tümer L.

    12/4/2021
    GM2-GM3 gangliosides ratio is dependent on GRP94 through down-regulation of GM2-AP cofactor in brain metastasis cells.

    GM2-GM3 gangliosides ratio is dependent on GRP94 through down-regulation of GM2-AP cofactor in brain metastasis cells.
    Bedia C, Badia M, Muixí L, Levade T, Tauler R, Sierra A., Free PMC Article

    11/21/2020
    Review of GM2A mutations causing GM2 activator protein deficiency and GM2 gangliosidosis-AB variant.

    GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
    Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F, Shah K., Free PMC Article

    11/26/2017
    Studies indicate that sphingolipid activator proteins (SAPs) and anionic lipids are essential stimulators to reach physiological rates of lysosomal sphingolipid degradation.

    Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism.
    Sandhoff K.

    02/4/2017
    this study has established the potential role of GM2A in breast cancer progression

    Identification of ganglioside GM2 activator playing a role in cancer cell migration through proteomic analysis of breast cancer secretomes.
    Shin J, Kim G, Lee JW, Lee JE, Kim YS, Yu JH, Lee ST, Ahn SH, Kim H, Lee C., Free PMC Article

    02/4/2017
    Mobilization of membrane lipids by GM2AP was also inhibited in the presence of cholesterol or SM, as revealed by surface plasmon resonance studies

    Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity.
    Anheuser S, Breiden B, Schwarzmann G, Sandhoff K., Free PMC Article

    05/28/2016
    Gene polymorphisms of MD2 and GM2A were associated with the occurrence or severity of neonatal necrotizing enterocolitis.

    Association of neonatal necrotizing enterocolitis with myeloid differentiation-2 and GM2 activator protein genetic polymorphisms.
    Zhou W, Yuan W, Huang L, Wang P, Rong X, Tang J., Free PMC Article

    01/2/2016
    In vitro assays with the isolated H1 or H2 homodimers (beta-alpha hybrid construct of beta-hexosaminidase A subunits) confirmed that neither was capable of human GM2AP-dependent hydrolysis of GM2 ganglioside.

    In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.
    Sinici I, Yonekawa S, Tkachyova I, Gray SJ, Samulski RJ, Wakarchuk W, Mark BL, Mahuran DJ., Free PMC Article

    09/7/2013
    impact of GM2AP on glucose metabolism

    Adipokine ganglioside GM2 activator protein stimulates insulin secretion.
    Higashi K, Kubo H, Watanabe H, Fujimori K, Mikami T, Kaneko H.

    10/15/2011
    Treatment of meniscal explants with IL-1RA inhibited the expression of many catabolic genes following a single bout of high dynamic strain.

    In vitro inhibition of compression-induced catabolic gene expression in meniscal explants following treatment with IL-1 receptor antagonist.
    Killian ML, Zielinska B, Gupta T, Haut Donahue TL.

    08/20/2011
    these results provide novel insights into the physiological functions of GM2AP in obesity.

    A novel adipokine GM2AP impairs insulin signaling.
    Higashi K, Mikami T, Yamada T, Kawashima H, Kimura T, Kaneko H.

    01/1/2011
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Two new structures of GM2-AP with bound lipids, showing two different lipid-binding modes within the apolar pocket

    Structural analysis of lipid complexes of GM2-activator protein.
    Wright CS, Zhao Q, Rastinejad F.

    01/21/2010
    alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A

    An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A.
    Zarghooni M, Bukovac S, Tropak M, Callahan J, Mahuran D., Free PMC Article

    01/21/2010
    glycosphingolipids, particularly GM2, form a complex with CD82, and this complex interacts with Met and thereby inhibits HGF-induced Met tyrosine kinase activity, as well as integrin to Met cross-talk

    Ganglioside GM2-tetraspanin CD82 complex inhibits met and its cross-talk with integrins, providing a basis for control of cell motility through glycosynapse.
    Todeschini AR, Dos Santos JN, Handa K, Hakomori SI.

    01/21/2010
    GM2 activator protein exerts strong and broad inhibitory effects on the hydrolysis of phospholipids carried out by plant and microbial phospholipases D

    Effect of GM2 activator protein on the enzymatic hydrolysis of phospholipids and sphingomyelin.
    Shimada Y, Li YT, Li SC.

    01/21/2010
    elucidation of mode of action on gangioside GM2

    Photoaffinity labelling of the human GM2-activator protein. Mechanistic insight into ganglioside GM2 degradation.
    Wendeler M, Hoernschemeyer J, Hoffmann D, Kolter T, Schwarzmann G, Sandhoff K.

    01/21/2010
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