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Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.

DNA and cell biology - 1 Feb 2020

Marazza Alessandro, Galli Carmela, Fasana Elisa, Sgrignani Jacopo, Burda Patricie, Fassi Enrico M A, Baumgartner Matthias, Cavalli Andrea, Molinari Maurizio

Abstract excerpt

Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of wild-type IDS (IDSWT) and four nonsense mutations of IDS (IDSL482X, IDSY452X, IDSR443X, and IDSW337X) generating progressively shorter forms of IDS associated...

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Identifiers

PMID: 31895584
DOI: 10.1089/dna.2019.5221

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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