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Article

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

American journal of human genetics - 1 Dec 2007

Rincón A, Aguado C, Desviat L R, Sánchez-Alcudia R, Ugarte M, Pérez B

Abstract excerpt

We describe the use of antisense morpholino oligonucleotides (AMOs) to restore normal splicing caused by intronic molecular defects identified in methylmalonic acidemia (MMA) and propionic acidemia (PA). The three new point mutations described in deep intronic regions increase the splicing scores of pseudoexons or generate consensus binding motifs for splicing factors, such as SRp40, which favor the intronic...

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Share to Amino Acid Metabolism, Inborn Errors
Share to Methylmalonyl-CoA Decarboxylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Morpholines

Share to Oligodeoxyribonucleotides, Antisense

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Source

Open in PubMed Open full text

Identifiers

PMID: 17966092
DOI: 10.1086/522376
PMCID: PMC2276355

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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