BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 36206736)

  • 1. The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis.
    Barelier S; Sulzenbacher G
    Structure; 2022 Oct; 30(10):1369-1371. PubMed ID: 36206736
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
    Chkioua L; Amri Y; Chaima S; Fenni F; Boudabous H; Ben Turkia H; Messaoud T; Tebib N; Laradi S
    BMC Med Genomics; 2021 Aug; 14(1):208. PubMed ID: 34425818
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).
    Mao SJ; Zhao J; Shen Z; Zou CC
    BMC Pediatr; 2022 Jul; 22(1):403. PubMed ID: 35820891
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions.
    Valero-Rubio D; Jiménez KM; Fonseca DJ; Payán-Gómez C; Laissue P
    Exp Dermatol; 2018 Jun; 27(6):663-667. PubMed ID: 29518279
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a novel homozygous
    Zhang X; Zhao S; Liu H; Wang X; Wang X; Du N; Liu H; Duan H
    J Int Med Res; 2021 Apr; 49(4):3000605211005975. PubMed ID: 33906529
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.
    Armstrong Z; Meek RW; Wu L; Blaza JN; Davies GJ
    Structure; 2022 Oct; 30(10):1443-1451.e5. PubMed ID: 35907402
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Identification of a Novel Fucosidosis-Associated
    Domin A; Zabek T; Kwiatkowska A; Szmatola T; Deregowska A; Lewinska A; Mazur A; Wnuk M
    Genes (Basel); 2021 Jan; 12(1):. PubMed ID: 33435586
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
    Wali G; Wali GM; Sue CM; Kumar KR
    Neuropediatrics; 2019 Aug; 50(4):248-252. PubMed ID: 31064022
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.
    Wolf H; Damme M; Stroobants S; D'Hooge R; Beck HC; Hermans-Borgmeyer I; Lüllmann-Rauch R; Dierks T; Lübke T
    Dis Model Mech; 2016 Sep; 9(9):1015-28. PubMed ID: 27491075
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations in the FUCA1 gene that cause fucosidosis.
    Panmontha W; Amarinthnukrowh P; Damrongphol P; Desudchit T; Suphapeetiporn K; Shotelersuk V
    Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706744
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fucosidosis: genetic and biochemical analysis of eight cases.
    Cragg H; Williamson M; Young E; O'Brien J; Alhadeff J; Fang-Kircher S; Paschke E; Winchester B
    J Med Genet; 1997 Feb; 34(2):105-10. PubMed ID: 9039984
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Crystal structure of Thermotoga maritima alpha-L-fucosidase. Insights into the catalytic mechanism and the molecular basis for fucosidosis.
    Sulzenbacher G; Bignon C; Nishimura T; Tarling CA; Withers SG; Henrissat B; Bourne Y
    J Biol Chem; 2004 Mar; 279(13):13119-28. PubMed ID: 14715651
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular biology of the alpha-L-fucosidase gene and fucosidosis.
    O'Brien JS; Willems PJ; Fukushima H; de Wet JR; Darby JK; Di Cioccio R; Fowler ML; Shows TB
    Enzyme; 1987; 38(1-4):45-53. PubMed ID: 2894306
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.
    DiCioccio RA; Darby JK; Willems PJ
    Biochem Genet; 1989 Jun; 27(5-6):279-90. PubMed ID: 2803224
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.
    Willems PJ; Darby JK; DiCioccio RA; Nakashima P; Eng C; Kretz KA; Cavalli-Sforza LL; Shooter EM; O'Brien JS
    Am J Hum Genet; 1988 Nov; 43(5):756-63. PubMed ID: 2903668
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 5' splice site mutation in fucosidosis.
    Williamson M; Cragg H; Grant J; Kretz K; O'Brien J; Willems PJ; Young E; Winchester B
    J Med Genet; 1993 Mar; 30(3):218-23. PubMed ID: 8097260
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel homozygous frameshift mutation in the
    Saleh-Gohari N; Saeidi K; Zeighaminejad R
    J Clin Pathol; 2018 Sep; 71(9):821-824. PubMed ID: 29588375
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation identification and characterization of a Taiwanese patient with fucosidosis.
    Lin SP; Chang JH; de la Cadena MP; Chang TF; Lee-Chen GJ
    J Hum Genet; 2007; 52(6):553-556. PubMed ID: 17427030
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.
    Yang M; Allen H; DiCioccio RA
    Biochim Biophys Acta; 1993 Oct; 1182(3):245-9. PubMed ID: 8399358
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.
    Stepien KM; Ciara E; Jezela-Stanek A
    Genes (Basel); 2020 Nov; 11(11):. PubMed ID: 33266441
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.