BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 35011691)

  • 1.
    De Filippis C; Napoli B; Rigon L; Guarato G; Bauer R; Tomanin R; Orso G
    Cells; 2021 Dec; 11(1):. PubMed ID: 35011691
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
    Wang D; Shukla C; Liu X; Schoeb TR; Clarke LA; Bedwell DM; Keeling KM
    Mol Genet Metab; 2010 Jan; 99(1):62-71. PubMed ID: 19751987
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
    Oussoren E; Keulemans J; van Diggelen OP; Oemardien LF; Timmermans RG; van der Ploeg AT; Ruijter GJ
    Mol Genet Metab; 2013 Aug; 109(4):377-81. PubMed ID: 23786846
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
    Keeling KM; Brooks DA; Hopwood JJ; Li P; Thompson JN; Bedwell DM
    Hum Mol Genet; 2001 Feb; 10(3):291-9. PubMed ID: 11159948
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway.
    Bouché V; Espinosa AP; Leone L; Sardiello M; Ballabio A; Botas J
    Autophagy; 2016; 12(3):484-98. PubMed ID: 26761346
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I).
    Barbosa Mendes A; do Nascimento CC; D'Almeida V
    PLoS One; 2019; 14(12):e0220429. PubMed ID: 31834922
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts.
    Unger EG; Durrant J; Anson DS; Hopwood JJ
    Biochem J; 1994 Nov; 304 ( Pt 1)(Pt 1):43-9. PubMed ID: 7998955
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of an α-l-iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I.
    Liu D; Jiang Z; Deng L; Li H; Jiang H
    Ann N Y Acad Sci; 2023 Aug; 1526(1):114-125. PubMed ID: 37347427
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
    Zahoor MY; Cheema HA; Ijaz S; Anjum MN; Ramzan K; Bhinder MA
    J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1221-1227. PubMed ID: 31473686
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Morphological damage in Sertoli, myoid and interstitial cells in a mouse model of mucopolysaccharidosis type I (MPS I).
    do Nascimento CC; Aguiar O; Viana GM; D'Almeida V
    Mol Biol Rep; 2021 Jan; 48(1):363-370. PubMed ID: 33319323
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I.
    Belur LR; Temme A; Podetz-Pedersen KM; Riedl M; Vulchanova L; Robinson N; Hanson LR; Kozarsky KF; Orchard PJ; Frey WH; Low WC; McIvor RS
    Hum Gene Ther; 2017 Jul; 28(7):576-587. PubMed ID: 28462595
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.
    Webber DL; Choo A; Hewson LJ; Trim PJ; Snel MF; Hopwood JJ; Richards RI; Hemsley KM; O'Keefe LV
    Exp Neurol; 2018 May; 303():38-47. PubMed ID: 29408731
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.
    Swaroop M; Brooks MJ; Gieser L; Swaroop A; Zheng W
    Hum Mol Genet; 2018 Oct; 27(20):3612-3626. PubMed ID: 30052969
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
    Tebani A; Zanoutene-Cheriet L; Adjtoutah Z; Abily-Donval L; Brasse-Lagnel C; Laquerrière A; Marret S; Chalabi Benabdellah A; Bekri S
    Int J Mol Sci; 2016 May; 17(5):. PubMed ID: 27196898
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.
    Kim C; Kwak MJ; Cho SY; Ko AR; Rheey J; Kwon JY; Chung Y; Jin DK
    Orphanet J Rare Dis; 2015 Sep; 10():121. PubMed ID: 26407983
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Increased longevity and metabolic correction following syngeneic BMT in a murine model of mucopolysaccharidosis type I.
    Wolf DA; Lenander AW; Nan Z; Braunlin EA; Podetz-Pedersen KM; Whitley CB; Gupta P; Low WC; McIvor RS
    Bone Marrow Transplant; 2012 Sep; 47(9):1235-40. PubMed ID: 22179554
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Platelets are efficient and protective depots for storage, distribution, and delivery of lysosomal enzyme in mice with Hurler syndrome.
    Dai M; Han J; El-Amouri SS; Brady RO; Pan D
    Proc Natl Acad Sci U S A; 2014 Feb; 111(7):2680-5. PubMed ID: 24550296
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
    Yogalingam G; Guo XH; Muller VJ; Brooks DA; Clements PR; Kakkis ED; Hopwood JJ
    Hum Mutat; 2004 Sep; 24(3):199-207. PubMed ID: 15300847
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach.
    Rigon L; Kucharowski N; Eckardt F; Bauer R
    Life (Basel); 2020 Oct; 10(11):. PubMed ID: 33142967
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Comparison of Endovascular and Intraventricular Gene Therapy With Adeno-Associated Virus-α-L-Iduronidase for Hurler Disease.
    Janson CG; Romanova LG; Leone P; Nan Z; Belur L; McIvor RS; Low WC
    Neurosurgery; 2014 Jan; 74(1):99-111. PubMed ID: 24077583
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.