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Article

Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.

Human mutation - 1 May 2015

Dal Mas Andrea, Fortugno Paola, Donadon Irving, Levati Lauretta, Castiglia Daniele, Pagani Franco

Abstract excerpt

The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS). Using a specific RNA-protein interaction assay followed by mass spectrometry analysis along with silencing and overexpression of splicing factors, we showed that this mutation affects a...

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Identifiers

PMID: 25665175
DOI: 10.1002/humu.22762

Genes

SPINK5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25665175-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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