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Article

Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.

Molecular genetics and metabolism - 1 Jul 2007

Tomatsu Shunji, Vogler Carole, Montaño Adriana M, Gutierrez Monica, Oikawa Hirotaka, Dung Vu Chi, Orii Tadao, Noguchi Akihiko, Sly William S

Abstract excerpt

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), required for degradation of keratan sulfate and chondroitin-6-sulfate. In order to study the effects of a missense mutation in the active site cysteine in the GALNS gene that is conserved in all mammalian sulfatases, we produced a p.C76S (an active site replacement)...

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Source

Identifiers

PMID: 17498992
DOI: 10.1016/j.ymgme.2007.02.009

Genes

GALNS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.PMID 17498992Read ↗

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