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@ARTICLE{Verma:163373,
      author       = {Verma, Shalja and Pantoom, Supansa and Petters, Janine and
                      Pandey, Anand Kumar and Hermann, Andreas and Lukas, Jan},
      title        = {{A} molecular genetics view on {M}ucopolysaccharidosis
                      {T}ype {II}.},
      journal      = {Mutation research / Reviews in mutation research},
      volume       = {788},
      issn         = {1383-5742},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DZNE-2022-00136},
      pages        = {108392},
      year         = {2021},
      abstract     = {Mucopolysaccharidosis Type II (MPS II) is an X-linked
                      recessive genetic disorder that primarily affects male
                      patients. With an incidence of 1 in 100,000 male live
                      births, the disease is one of the orphan diseases. MPS II
                      symptoms are caused by mutations in the lysosomal
                      iduronate-2-sulfatase (IDS) gene. The mutations cause a loss
                      of enzymatic performance and result in the accumulation of
                      glycosaminoglycans (GAGs), heparan sulfate and dermatan
                      sulfate, which are no longer degradable. This inadvertent
                      accumulation causes damage in multiple organs and leads
                      either to a severe neurological course or to an attenuated
                      course of the disease, although the exact relationship
                      between mutation, extent of GAG accumulation and disease
                      progression is not yet fully understood. This review is
                      intended to present current diagnostic procedures and
                      therapeutic interventions. In times when the genetic profile
                      of patients plays an increasingly important role in the
                      assessment of therapeutic success and future drug design, we
                      chose to further elucidate the impact of genetic diversity
                      within the IDS gene on disease phenotype and potential
                      implications in current diagnosis, prognosis and therapy. We
                      report recent advances in the structural biological
                      elucidation of I2S enzyme that that promises to improve our
                      future understanding of the molecular damage of the hundreds
                      of IDS gene variants and will aid damage prediction of novel
                      mutations in the future.},
      subtyp        = {Review Article},
      keywords     = {Animals / Glycoproteins: chemistry / Glycoproteins:
                      genetics / Glycoproteins: metabolism / Humans /
                      Mucopolysaccharidosis II: drug therapy /
                      Mucopolysaccharidosis II: genetics / Mucopolysaccharidosis
                      II: metabolism / Mutation / Phenotype / Genotype-phenotype
                      correlation (Other) / Hunter syndrome (Other) /
                      Iduronate-2-sulfatase (Other) / Individualized medicine
                      (Other) / Lysosomal storage disease (Other) / Missense
                      mutations (Other) / Glycoproteins (NLM Chemicals) / IDS
                      protein, human (NLM Chemicals)},
      cin          = {AG Teipel},
      ddc          = {570},
      cid          = {I:(DE-2719)1510100},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34893157},
      doi          = {10.1016/j.mrrev.2021.108392},
      url          = {https://pub.dzne.de/record/163373},
}