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Article

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.

Journal of inherited metabolic disease - 1 Sept 2017

Lau Adeline A, King Barbara M, Thorsen Carly L, Hassiotis Sofia, Beard Helen, Trim Paul J, Whyte Lauren S, Tamang Sarah J, Duplock Stephen K, Snel Marten F, Hopwood John J, Hemsley Kim M

Abstract excerpt

Mucopolysaccharidosis (MPS) type IIIA, or Sanfilippo syndrome, is a neurodegenerative lysosomal storage disorder caused by a deficiency of the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), involved in the catabolism of heparan sulfate. The clinical spectrum is broad and the age of symptom onset and the degree of preservation of cognitive and motor functions appears greatly influenced by genotype. To...

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Source

Identifiers

PMID: 28451919
DOI: 10.1007/s10545-017-0044-4

Genes

SGSH

Provenance

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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