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322 related items for PubMed ID: 27906067

  • 1. Aspartylglycosaminuria: a review.
    Arvio M, Mononen I.
    Orphanet J Rare Dis; 2016 Dec 01; 11(1):162. PubMed ID: 27906067
    [Abstract] [Full Text] [Related]

  • 2. Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
    Peltola M, Kyttälä A, Heinonen O, Rapola J, Paunio T, Revah F, Peltonen L, Jalanko A.
    Gene Ther; 1998 Oct 01; 5(10):1314-21. PubMed ID: 9930336
    [Abstract] [Full Text] [Related]

  • 3. Enzyme replacement therapy in a mouse model of aspartylglycosaminuria.
    Dunder U, Kaartinen V, Valtonen P, Väänänen E, Kosma VM, Heisterkamp N, Groffen J, Mononen I.
    FASEB J; 2000 Feb 01; 14(2):361-7. PubMed ID: 10657992
    [Abstract] [Full Text] [Related]

  • 4. Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
    Dunder U, Valtonen P, Kelo E, Mononen I.
    J Inherit Metab Dis; 2010 Oct 01; 33(5):611-7. PubMed ID: 20607610
    [Abstract] [Full Text] [Related]

  • 5. Aspartylglycosaminuria: biochemistry and molecular biology.
    Aronson NN.
    Biochim Biophys Acta; 1999 Oct 08; 1455(2-3):139-54. PubMed ID: 10571008
    [Abstract] [Full Text] [Related]

  • 6. A mouse model for the human lysosomal disease aspartylglycosaminuria.
    Kaartinen V, Mononen I, Voncken JW, Noronkoski T, Gonzalez-Gomez I, Heisterkamp N, Groffen J.
    Nat Med; 1996 Dec 08; 2(12):1375-8. PubMed ID: 8946839
    [Abstract] [Full Text] [Related]

  • 7. Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
    Ikonen E, Syvänen AC, Peltonen L.
    Scand J Clin Lab Invest Suppl; 1993 Dec 08; 213():19-27. PubMed ID: 8322015
    [Abstract] [Full Text] [Related]

  • 8. Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.
    Pande S, Bizilj W, Guo HC.
    FEBS Lett; 2018 Aug 08; 592(15):2550-2561. PubMed ID: 29993127
    [Abstract] [Full Text] [Related]

  • 9. Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy.
    Kelo E, Dunder U, Mononen I.
    Glycobiology; 2005 Jan 08; 15(1):79-85. PubMed ID: 15342551
    [Abstract] [Full Text] [Related]

  • 10. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
    Jalanko A, Tenhunen K, McKinney CE, LaMarca ME, Rapola J, Autti T, Joensuu R, Manninen T, Sipilä I, Ikonen S, Riekkinen P, Ginns EI, Peltonen L.
    Hum Mol Genet; 1998 Feb 08; 7(2):265-72. PubMed ID: 9425233
    [Abstract] [Full Text] [Related]

  • 11. The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria.
    Pande S, Guo HC.
    Protein Sci; 2019 Jun 08; 28(6):1013-1023. PubMed ID: 30901125
    [Abstract] [Full Text] [Related]

  • 12. A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
    Saarela J, von Schantz C, Peltonen L, Jalanko A.
    Hum Mutat; 2004 Oct 08; 24(4):350-1. PubMed ID: 15365992
    [Abstract] [Full Text] [Related]

  • 13. Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
    Isoniemi A, Hietala M, Aula P, Jalanko A, Peltonen L.
    Hum Mutat; 1995 Oct 08; 5(4):318-26. PubMed ID: 7627186
    [Abstract] [Full Text] [Related]

  • 14. Aspartylglucosaminuria among Palestinian Arabs.
    Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M.
    J Inherit Metab Dis; 1997 Nov 08; 20(6):799-802. PubMed ID: 9427148
    [Abstract] [Full Text] [Related]

  • 15. Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria.
    Dunder U, Mononen I.
    FEBS Lett; 2001 Jun 15; 499(1-2):77-81. PubMed ID: 11418116
    [Abstract] [Full Text] [Related]

  • 16. Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer.
    Enomaa N, Danos O, Peltonen L, Jalanko A.
    Hum Gene Ther; 1995 Jun 15; 6(6):723-31. PubMed ID: 7548272
    [Abstract] [Full Text] [Related]

  • 17. Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.
    Banning A, Schiff M, Tikkanen R.
    Biochim Biophys Acta Mol Basis Dis; 2018 Mar 15; 1864(3):668-675. PubMed ID: 29247835
    [Abstract] [Full Text] [Related]

  • 18. Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.
    Arvio P, Arvio M, Kero M, Pirinen S, Lukinmaa PL.
    J Med Genet; 1999 May 15; 36(5):398-404. PubMed ID: 10353787
    [Abstract] [Full Text] [Related]

  • 19. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
    Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L.
    Genomics; 1992 Mar 15; 12(3):590-5. PubMed ID: 1559710
    [Abstract] [Full Text] [Related]

  • 20. Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
    Mononen I, Fisher KJ, Kaartinen V, Aronson NN.
    FASEB J; 1993 Oct 15; 7(13):1247-56. PubMed ID: 8405810
    [Abstract] [Full Text] [Related]

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