163373 20240613111600.0 1383-5718 ISSN 10.1016/j.mrrev.2021.108392 doi pmid:34893157 pmid 1383-5742 ISSN 1388-2139 ISSN DZNE-2022-00136 English 570 Verma, Shalja 0 A molecular genetics view on Mucopolysaccharidosis Type II. Amsterdam [u.a.] 2021 Elsevier Science article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1718270095_11706 PUB:(DE-HGF) Review Article ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote 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. 353 - Clinical and Health Care Research (POF4-353) G:(DE-HGF)POF4-353 POF4-353 POF IV 0 Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de 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 Animals MeSH Glycoproteins: chemistry MeSH Glycoproteins: genetics MeSH Glycoproteins: metabolism MeSH Humans MeSH Mucopolysaccharidosis II: drug therapy MeSH Mucopolysaccharidosis II: genetics MeSH Mucopolysaccharidosis II: metabolism MeSH Mutation MeSH Phenotype MeSH Pantoom, Supansa 1 Petters, Janine 2 Pandey, Anand Kumar 3 Hermann, Andreas P:(DE-2719)2811732 4 dzne Lukas, Jan 5 10.1016/j.mrrev.2021.108392 Vol. 788, p. 108392 - PERI:(DE-600)2210266-8 108392 Mutation research / Reviews in mutation research 788 2021 1383-5742 http://pub.dzne.de/record/163373/files/DZNE-2022-00136_Restricted.pdf http://pub.dzne.de/record/163373/files/DZNE-2022-00136_Restricted.pdf?subformat=pdfa pdfa VDB oai:pub.dzne.de:163373 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 4 P:(DE-2719)2811732 DE-HGF Gesundheit Neurodegenerative Diseases G:(DE-HGF)POF4-350 G:(DE-HGF)POF4-353 G:(DE-HGF)POF4 G:(DE-HGF)POF4-300 G:(DE-HGF)POF Clinical and Health Care Research 0 2021 DBCoverage StatID:(DE-HGF)0160 StatID Essential Science Indicators 2021-01-31 DBCoverage StatID:(DE-HGF)1190 StatID Biological Abstracts 2021-01-31 WoS StatID:(DE-HGF)0113 StatID Science Citation Index Expanded 2021-01-31 Nationallizenz StatID:(DE-HGF)0420 StatID 2023-03-30 ger DBCoverage StatID:(DE-HGF)0300 StatID Medline 2023-03-30 DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List 2023-03-30 DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection 2023-03-30 DBCoverage StatID:(DE-HGF)1050 StatID BIOSIS Previews 2023-03-30 DBCoverage StatID:(DE-HGF)1030 StatID Current Contents - Life Sciences 2023-03-30 JCR StatID:(DE-HGF)0100 StatID MUTAT RES-REV MUTAT : 2021 2023-03-30 DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS 2023-03-30 DBCoverage StatID:(DE-HGF)0600 StatID Ebsco Academic Search 2023-03-30 Peer Review StatID:(DE-HGF)0030 StatID ASC 2023-03-30 IF >= 5 StatID:(DE-HGF)9905 StatID MUTAT RES-REV MUTAT : 2021 2023-03-30 I:(DE-2719)1510100 AG Teipel Clinical Dementia Research (Rostock /Greifswald) 0 journal VDB I:(DE-2719)1510100 UNRESTRICTED