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Journal Abstract Search

164 related items for PubMed ID: 8405810

  • 21. Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
    Delahunty CM, Ankener W, Brainerd S, Nickerson DA, Mononen IT.
    Clin Chem; 1995 Jan; 41(1):59-61. PubMed ID: 7813081
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  • 22. 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 Jan; 5(4):318-26. PubMed ID: 7627186
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  • 23. 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 Jan; 213():19-27. PubMed ID: 8322015
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  • 24. 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; 12(3):590-5. PubMed ID: 1559710
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  • 25. Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.
    Sui L, Lakshminarasimhan D, Pande S, Guo HC.
    Structure; 2014 Dec 02; 22(12):1855-1861. PubMed ID: 25456816
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  • 26. 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 02; 6(6):723-31. PubMed ID: 7548272
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  • 30. Localization of the disulfide bond involved in post-translational processing of glycosylasparaginase and disrupted by a mutation in the Finnish-type aspartylglycosaminuria.
    McCormack AL, Mononen I, Kaartinen V, Yates JR.
    J Biol Chem; 1995 Feb 17; 270(7):3212-5. PubMed ID: 7852406
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  • 31. Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
    Saarela J, Laine M, Oinonen C, von Schantz C, Jalanko A, Rouvinen J, Peltonen L.
    Hum Mol Genet; 2001 Apr 15; 10(9):983-95. PubMed ID: 11309371
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  • 32. The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria.
    Pande S, Guo HC.
    Protein Sci; 2019 Jun 15; 28(6):1013-1023. PubMed ID: 30901125
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  • 36. 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 15; 7(2):265-72. PubMed ID: 9425233
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  • 39. 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 15; 33(5):611-7. PubMed ID: 20607610
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