Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

@article{Borgwardt2015AlphamannosidosisCB,
  title={Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation},
  author={Line Borgwardt and Hilde Monica Frostad Riise Stensland and Klaus Juul Olsen and Flemming Wibrand and Helle Bagterp Klenow and Michael Beck and Yasmina Amraoui and Laila Arash and Jens Fogh and {\O}ivind Nilssen and Christine I. Dali and Allan Meldgaard Lund},
  journal={Orphanet Journal of Rare Diseases},
  year={2015},
  volume={10}
}
  • Line Borgwardt, Hilde Monica Frostad Riise Stensland, +9 authors Allan Meldgaard Lund
  • Published 2015
  • Biology, Medicine
  • Orphanet Journal of Rare Diseases
  • BackgroundAlpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities.MethodsTo study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted effect of the mutations and the subcellular localisation of mutant MAN2B1 in cultured cells, the patients… CONTINUE READING

    Paper Mentions

    INTERVENTIONAL CLINICAL TRIAL
    This is a single-center, open-label, dose escalation study of patients with alpha-mannosidosis. 10 patients will be enrolled in this study receiving intravenous infusions of… Expand
    ConditionsAlpha Mannosidosis
    InterventionDrug

    Citations

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