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Article

COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations.

Biochimica et biophysica acta - 5 Mar 1998

Millat G, Froissart R, Cudry S, Bonnet V, Maire I, Bozon D

Abstract excerpt

Three missense mutations identified in the IDS gene of our Hunter's disease patients (P86L, P480L and P480Q) and the previously described P86R mutation were expressed in COS cells to evaluate their functional consequence on iduronate-2-sulfatase (IDS) activity and processing. The 86-proline residue belongs to the highly conserved pentapeptide C-X-P-S-R in which cysteine modification to a formylglycine is required...

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Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9573369
DOI: 10.1016/s0925-4439(97)00096-3

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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