BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 37014712)

  • 1. Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
    Yang H; Brown RH; Wang D; Strauss KA; Gao G
    JCI Insight; 2023 May; 8(9):. PubMed ID: 37014712
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
    Watanabe S; Lei M; Nakagawa E; Takeshita E; Inamori KI; Shishido F; Sasaki M; Mitsuhashi S; Matsumoto N; Kimura Y; Iwasaki M; Takahashi Y; Mizusawa H; Migita O; Ohno I; Inokuchi JI
    Brain Dev; 2023 May; 45(5):270-277. PubMed ID: 36690566
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
    Dookwah M; Wagner SK; Ishihara M; Yu SH; Ulrichs H; Kulik MJ; Zeltner N; Dalton S; Strauss KA; Aoki K; Steet R; Tiemeyer M
    Hum Mol Genet; 2023 Dec; 32(24):3323-3341. PubMed ID: 37676252
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
    Indellicato R; Parini R; Domenighini R; Malagolini N; Iascone M; Gasperini S; Masera N; dall'Olio F; Trinchera M
    Glycobiology; 2019 Mar; 29(3):229-241. PubMed ID: 30576498
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.
    Inamori KI; Inokuchi JI
    Int J Mol Sci; 2022 May; 23(10):. PubMed ID: 35628171
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygous variants within two conserved sialyltransferase motifs of
    Rudy N; Aoki K; Ananth A; Holloway L; Skinner C; Hurst A; Tiemeyer M; Steet R
    JIMD Rep; 2023 Mar; 64(2):138-145. PubMed ID: 36873089
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
    Boccuto L; Aoki K; Flanagan-Steet H; Chen CF; Fan X; Bartel F; Petukh M; Pittman A; Saul R; Chaubey A; Alexov E; Tiemeyer M; Steet R; Schwartz CE
    Hum Mol Genet; 2014 Jan; 23(2):418-33. PubMed ID: 24026681
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a new liver-specific c-type mRNA transcriptional variant for mouse ST3GAL5 (GM3/GM4 synthase).
    Shishido F; Uemura S; Nitta T; Inokuchi JI
    Glycoconj J; 2017 Oct; 34(5):651-659. PubMed ID: 28808804
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GM3 synthase deficiency in non-Amish patients.
    Heide S; Jacquemont ML; Cheillan D; Renouil M; Tallot M; Schwartz CE; Miquel J; Bintner M; Rodriguez D; Darcel F; Buratti J; Haye D; Passemard S; Gras D; Perrin L; Capri Y; Gérard B; Piton A; Keren B; Thauvin-Robinet C; Duffourd Y; Faivre L; Poe C; Pervillé A; Héron D; Thévenon J; Arnaud L; LeGuern E; La Selva L; Vetro A; Guerrini R; Nava C; Mignot C
    Genet Med; 2022 Feb; 24(2):492-498. PubMed ID: 34906476
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel compound heterozygous mutations in ganglioside GM3 synthase deficiency.
    Liang RX; Zheng H; Yang YL
    J Biol Regul Homeost Agents; 2020; 34(3):1157-1162. PubMed ID: 32666775
    [No Abstract]   [Full Text] [Related]  

  • 11. ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.
    Gordon-Lipkin E; Cohen JS; Srivastava S; Soares BP; Levey E; Fatemi A
    J Child Neurol; 2018 Nov; 33(13):825-831. PubMed ID: 30185102
    [TBL] [Abstract][Full Text] [Related]  

  • 12. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
    Lee JS; Yoo Y; Lim BC; Kim KJ; Song J; Choi M; Chae JH
    Am J Med Genet A; 2016 Aug; 170(8):2200-5. PubMed ID: 27232954
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Visual Function in Mice Lacking GM3 Synthase.
    Hiraoka M; Ohkawa E; Abe A; Murata M; Go S; Inokuchi JI; Ohguro H
    Curr Eye Res; 2019 Jun; 44(6):664-670. PubMed ID: 30688114
    [No Abstract]   [Full Text] [Related]  

  • 14. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts.
    Liu Y; Su Y; Wiznitzer M; Epifano O; Ladisch S
    Glycobiology; 2008 Aug; 18(8):593-601. PubMed ID: 18480157
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Enhanced Susceptibility to Chemoconvulsant-Induced Seizures in Ganglioside GM3 Synthase Knockout Mice.
    Tang FL; Wang J; Itokazu Y; Yu RK
    ASN Neuro; 2020; 12():1759091420938175. PubMed ID: 32664815
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.
    Trinchera M; Parini R; Indellicato R; Domenighini R; dall'Olio F
    Mol Genet Metab; 2018 Aug; 124(4):230-237. PubMed ID: 29983310
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Sex-Specific ADHD-like Behaviour, Altered Metabolic Functions, and Altered EEG Activity in Sialyltransferase ST3GAL5-Deficient Mice.
    Strekalova T; Veniaminova E; Svirin E; Kopeikina E; Veremeyko T; Yung AWY; Proshin A; Tan SZK; Khairuddin S; Lim LW; Lesch KP; Walitza S; Anthony DC; Ponomarev ED
    Biomolecules; 2021 Nov; 11(12):. PubMed ID: 34944404
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Synthetic GM1 improves motor and memory dysfunctions in mice with monoallelic or biallelic disruption of GM3 synthase.
    Chowdhury S; Kumar R; Zepeda E; DeFrees S; Ledeen R
    FEBS Open Bio; 2023 Sep; 13(9):1651-1657. PubMed ID: 37401916
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.
    Tonin R; Feo F; Falliano S; Giunti L; Calamai M; Procopio E; Mari F; Sciruicchio V; Conti V; Fanelli I; Bambi F; Guerrini R; Morrone A
    Stem Cell Res; 2024 May; 77():103431. PubMed ID: 38703669
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.
    Aoki K; Heaps AD; Strauss KA; Tiemeyer M
    Clin Mass Spectrom; 2019 Nov; 14 Pt B():106-114. PubMed ID: 34917767
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.