Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

Palhais, Bruno

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. [electronic resource] - Nucleic acids research May 2015 - 4627-39 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1362-4962

10.1093/nar/gkv275 doi


Anemia, Megaloblastic--enzymology
Cell Line
Cells, Cultured
Exons
Ferredoxin-NADP Reductase--genetics
HEK293 Cells
Homocystinuria--enzymology
Humans
Mutation
Oligonucleotides
RNA Splice Sites
RNA Splicing
Regulatory Sequences, Ribonucleic Acid