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

  title={Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation},
  author={Line Gutte 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 Olaf Svanholm Fogh and \Oivind Nilssen and Christine I. Dali and Allan Meldgaard Lund},
  booktitle={Orphanet journal of rare diseases},
BACKGROUND Alpha-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. METHODS To 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… CONTINUE READING
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