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Article

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Nov 2008

Klootwijk Riko D, Savelkoul Paul J M, Ciccone Carla, Manoli Irini, Caplen Natasha J, Krasnewich Donna M, Gahl William A, Huizing Marjan

Abstract excerpt

Dominant disease alleles are attractive therapeutic targets for allele-specific gene silencing by small interfering RNA (siRNA). Sialuria is a dominant disorder caused by missense mutations in the allosteric site of GNE, coding for the rate-limiting enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. The resultant loss of feedback inhibition of GNE-epimerase activity by CMP-sialic acid...

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Source

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Identifiers

PMID: 18653764
DOI: 10.1096/fj.08-110890
PMCID: PMC2574030

Genes

GNE

Variants

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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