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Article

Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5'-splice site mutation of human cathepsin A gene.

Gene - 30 Nov 2018

Yamazaki Naoshi, Kanazawa Keisuke, Kimura Maria, Ike Hironobu, Shinomiya Makiko, Tanaka Shouko, Shinohara Yasuo, Minakawa Noriaki, Itoh Kohji, Takiguchi Yoshiharu

Abstract excerpt

Cathepsin A (CTSA) is a multifunctional lysosomal enzyme, and its hereditary defect causes an autosomal recessive disorder called galactosialidosis. In a certain number of galactosialidosis patients, a base substitution from adenine to guanine is observed at the +3 position of the 7th intron (IVS7 +3a>g) of the CTSA gene. With this mutation, a splicing error occurs; and consequently mRNA lacking the 7th exon is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30010039
DOI: 10.1016/j.gene.2018.07.030

Genes

CTSA

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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