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Article

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.

Molecular genetics and metabolism - 1 Feb 2011

Sánchez-Alcudia Rocío, Pérez Belén, Pérez-Cerdá Celia, Ugarte M, Desviat Lourdes R

Abstract excerpt

Splicing defects account for 16% of the mutant alleles in the PCCA and PCCB genes, encoding both subunits of the propionyl-CoA carboxylase (PCC) enzyme, defective in propionic acidemia, one of the most frequent organic acidemias causing variable neurological impairment. Most of the splicing mutations identified affect the conserved 3' splice (3' ss) or 5' splice (5' ss) sites, the latter predictably through...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21094621
DOI: 10.1016/j.ymgme.2010.10.013

Genes

PCCA
PCCB

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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Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.PMID 21094621Read ↗

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