BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 12067718)

  • 1. Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.
    Uhl J; Penzel R; Sergi C; Kopitz J; Otto HF; Cantz M
    FEBS Lett; 2002 Jun; 521(1-3):19-23. PubMed ID: 12067718
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient.
    Penzel R; Uhl J; Kopitz J; Beck M; Otto HF; Cantz M
    FEBS Lett; 2001 Jul; 501(2-3):135-8. PubMed ID: 11470272
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
    Kwak JE; Son MY; Son YS; Son MJ; Cho YS
    Biochem Biophys Res Commun; 2015 Feb; 457(4):554-60. PubMed ID: 25600812
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
    Lukong KE; Landry K; Elsliger MA; Chang Y; Lefrancois S; Morales CR; Pshezhetsky AV
    J Biol Chem; 2001 May; 276(20):17286-90. PubMed ID: 11279074
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.
    de Geest N; Bonten E; Mann L; de Sousa-Hitzler J; Hahn C; d'Azzo A
    Hum Mol Genet; 2002 Jun; 11(12):1455-64. PubMed ID: 12023988
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
    Oheda Y; Kotani M; Murata M; Sakuraba H; Kadota Y; Tatano Y; Kuwahara J; Itoh K
    Glycobiology; 2006 Apr; 16(4):271-80. PubMed ID: 16361247
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency.
    Luu AR; Wong C; Agrawal V; Wise N; Handyside B; Lo MJ; Pacheco G; Felix JB; Giaramita A; d'Azzo A; Vincelette J; Bullens S; Bunting S; Christianson TM; Hague CM; LeBowitz JH; Yogalingam G
    J Biol Chem; 2020 Sep; 295(39):13556-13569. PubMed ID: 32727849
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
    Lukong KE; Elsliger MA; Chang Y; Richard C; Thomas G; Carey W; Tylki-Szymanska A; Czartoryska B; Buchholz T; Criado GR; Palmeri S; Pshezhetsky AV
    Hum Mol Genet; 2000 Apr; 9(7):1075-85. PubMed ID: 10767332
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
    Pattison S; Pankarican M; Rupar CA; Graham FL; Igdoura SA
    Hum Mutat; 2004 Jan; 23(1):32-9. PubMed ID: 14695530
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.
    Seol B; Kim YD; Cho YS
    Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33922276
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lysosomal multienzyme complex: pros and cons of working together.
    Bonten EJ; Annunziata I; d'Azzo A
    Cell Mol Life Sci; 2014 Jun; 71(11):2017-32. PubMed ID: 24337808
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular pathology of NEU1 gene in sialidosis.
    Seyrantepe V; Poupetova H; Froissart R; Zabot MT; Maire I; Pshezhetsky AV
    Hum Mutat; 2003 Nov; 22(5):343-52. PubMed ID: 14517945
    [TBL] [Abstract][Full Text] [Related]  

  • 13. In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
    Bonardi D; Ravasio V; Borsani G; d'Azzo A; Bresciani R; Monti E; Giacopuzzi E
    PLoS One; 2014; 9(8):e104229. PubMed ID: 25153125
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.
    Itoh K; Tsukimoto J
    Glycoconj J; 2023 Dec; 40(6):611-619. PubMed ID: 38147151
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gene therapy corrects the neurological deficits of mice with sialidosis.
    Hwu WL; Chang K; Liu YH; Wang HC; Lee NC; Chien YH
    Gene Ther; 2024 May; 31(5-6):263-272. PubMed ID: 38321198
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Short-term, high dose enzyme replacement therapy in sialidosis mice.
    Wang D; Bonten EJ; Yogalingam G; Mann L; d'Azzo A
    Mol Genet Metab; 2005 Jul; 85(3):181-9. PubMed ID: 15979029
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
    Caciotti A; Melani F; Tonin R; Cellai L; Catarzi S; Procopio E; Chilleri C; Mavridou I; Michelakakis H; Fioravanti A; d'Azzo A; Guerrini R; Morrone A
    Mol Genet Metab; 2020 Feb; 129(2):47-58. PubMed ID: 31711734
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells.
    Seyrantepe V; Landry K; Trudel S; Hassan JA; Morales CR; Pshezhetsky AV
    J Biol Chem; 2004 Aug; 279(35):37021-9. PubMed ID: 15213228
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.
    Ahn JH; Kim AR; Lee C; Kim NKD; Kim NS; Park WY; Kim M; Youn J; Cho JW; Kim JS
    Cerebellum; 2019 Jun; 18(3):659-664. PubMed ID: 30635863
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
    Gowda VK; Srinivasan VM; Benakappa N; Benakappa A
    Indian J Pediatr; 2017 May; 84(5):403-404. PubMed ID: 28138907
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.