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Article

Molecular pathology of NEU1 gene in sialidosis.

Human mutation - 1 Nov 2003

Seyrantepe Volkan, Poupetova Helena, Froissart Roseline, Zabot Marie-Thérèse, Maire Irène, Pshezhetsky Alexey V

Abstract excerpt

Lysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in the sialidase gene NEU1, located on chromosome 6p21.3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and...

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Source

Identifiers

PMID: 14517945
DOI: 10.1002/humu.10268

Genes

NEU1

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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