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000163373 0247_ $$2doi$$a10.1016/j.mrrev.2021.108392
000163373 0247_ $$2pmid$$apmid:34893157
000163373 0247_ $$2ISSN$$a1383-5742
000163373 0247_ $$2ISSN$$a1388-2139
000163373 037__ $$aDZNE-2022-00136
000163373 041__ $$aEnglish
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000163373 1001_ $$aVerma, Shalja$$b0
000163373 245__ $$aA molecular genetics view on Mucopolysaccharidosis Type II.
000163373 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2021
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000163373 520__ $$aMucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (IDS) gene. The mutations cause a loss of enzymatic performance and result in the accumulation of glycosaminoglycans (GAGs), heparan sulfate and dermatan sulfate, which are no longer degradable. This inadvertent accumulation causes damage in multiple organs and leads either to a severe neurological course or to an attenuated course of the disease, although the exact relationship between mutation, extent of GAG accumulation and disease progression is not yet fully understood. This review is intended to present current diagnostic procedures and therapeutic interventions. In times when the genetic profile of patients plays an increasingly important role in the assessment of therapeutic success and future drug design, we chose to further elucidate the impact of genetic diversity within the IDS gene on disease phenotype and potential implications in current diagnosis, prognosis and therapy. We report recent advances in the structural biological elucidation of I2S enzyme that that promises to improve our future understanding of the molecular damage of the hundreds of IDS gene variants and will aid damage prediction of novel mutations in the future.
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000163373 650_7 $$2Other$$aGenotype-phenotype correlation
000163373 650_7 $$2Other$$aHunter syndrome
000163373 650_7 $$2Other$$aIduronate-2-sulfatase
000163373 650_7 $$2Other$$aIndividualized medicine
000163373 650_7 $$2Other$$aLysosomal storage disease
000163373 650_7 $$2Other$$aMissense mutations
000163373 650_7 $$2NLM Chemicals$$aGlycoproteins
000163373 650_7 $$2NLM Chemicals$$aIDS protein, human
000163373 650_2 $$2MeSH$$aAnimals
000163373 650_2 $$2MeSH$$aGlycoproteins: chemistry
000163373 650_2 $$2MeSH$$aGlycoproteins: genetics
000163373 650_2 $$2MeSH$$aGlycoproteins: metabolism
000163373 650_2 $$2MeSH$$aHumans
000163373 650_2 $$2MeSH$$aMucopolysaccharidosis II: drug therapy
000163373 650_2 $$2MeSH$$aMucopolysaccharidosis II: genetics
000163373 650_2 $$2MeSH$$aMucopolysaccharidosis II: metabolism
000163373 650_2 $$2MeSH$$aMutation
000163373 650_2 $$2MeSH$$aPhenotype
000163373 7001_ $$aPantoom, Supansa$$b1
000163373 7001_ $$aPetters, Janine$$b2
000163373 7001_ $$aPandey, Anand Kumar$$b3
000163373 7001_ $$0P:(DE-2719)2811732$$aHermann, Andreas$$b4$$udzne
000163373 7001_ $$aLukas, Jan$$b5
000163373 773__ $$0PERI:(DE-600)2210266-8$$a10.1016/j.mrrev.2021.108392$$gVol. 788, p. 108392 -$$p108392$$tMutation research / Reviews in mutation research$$v788$$x1383-5742$$y2021
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