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001     163373
005     20240613111600.0
024 7 _ |a 1383-5718
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024 7 _ |a 10.1016/j.mrrev.2021.108392
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024 7 _ |a 1383-5742
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024 7 _ |a 1388-2139
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037 _ _ |a DZNE-2022-00136
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Verma, Shalja
|b 0
245 _ _ |a A molecular genetics view on Mucopolysaccharidosis Type II.
260 _ _ |a Amsterdam [u.a.]
|c 2021
|b Elsevier Science
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520 _ _ |a 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.
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650 _ 7 |a Genotype-phenotype correlation
|2 Other
650 _ 7 |a Hunter syndrome
|2 Other
650 _ 7 |a Iduronate-2-sulfatase
|2 Other
650 _ 7 |a Individualized medicine
|2 Other
650 _ 7 |a Lysosomal storage disease
|2 Other
650 _ 7 |a Missense mutations
|2 Other
650 _ 7 |a Glycoproteins
|2 NLM Chemicals
650 _ 7 |a IDS protein, human
|2 NLM Chemicals
650 _ 2 |a Animals
|2 MeSH
650 _ 2 |a Glycoproteins: chemistry
|2 MeSH
650 _ 2 |a Glycoproteins: genetics
|2 MeSH
650 _ 2 |a Glycoproteins: metabolism
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Mucopolysaccharidosis II: drug therapy
|2 MeSH
650 _ 2 |a Mucopolysaccharidosis II: genetics
|2 MeSH
650 _ 2 |a Mucopolysaccharidosis II: metabolism
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Phenotype
|2 MeSH
700 1 _ |a Pantoom, Supansa
|b 1
700 1 _ |a Petters, Janine
|b 2
700 1 _ |a Pandey, Anand Kumar
|b 3
700 1 _ |a Hermann, Andreas
|0 P:(DE-2719)2811732
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|u dzne
700 1 _ |a Lukas, Jan
|b 5
773 _ _ |a 10.1016/j.mrrev.2021.108392
|g Vol. 788, p. 108392 -
|0 PERI:(DE-600)2210266-8
|p 108392
|t Mutation research / Reviews in mutation research
|v 788
|y 2021
|x 1383-5742
856 4 _ |u https://pub.dzne.de/record/163373/files/DZNE-2022-00136_Restricted.pdf
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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