In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1387-1395

  Blázquez, Lorea ^a,b   Aiastui, Ana ^b,c   Goicoechea, Maria ^b,c   Martins de Araujo, Mafalda ^d   Avril, Aurélie ^e   Beley, Cyriaque ^e   García, Luis ^e   Valcárcel, Juan ^d   Fortes, Puri ^a   López de Munain, Adolfo ^b,c,f,g  

^a UNIVERSITY OF NAVARRA   (Spain)

^b BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^d CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^e SORBONNE UNIVERSITÉ   (France)

^f HOSPITAL DONOSTIA   (Spain)

^g UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

Antisense oligonucleotide; AON; Exon skipping; LGMD2A; Limb girdle muscular dystrophy; Pseudoexon; UsnRNA

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; MESSENGER RNA; SMALL INTERFERING RNA; SMALL NUCLEAR RNA;

ADULT; ARTICLE; CASE REPORT; DNA DETERMINATION; ENHANCER REGION; FEMALE; FIBROBLAST; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HELA CELL; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INFORMED CONSENT; LIMB GIRDLE MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; ROOM TEMPERATURE; SKIN BIOPSY; UNIVERSITY HOSPITAL; WHEELCHAIR;

ANTISENSE OLIGONUCLEOTIDE; AON; EXON SKIPPING; LGMD2A; LIMB-GIRDLE MUSCULAR DYSTROPHY; PSEUDOEXON; USNRNA;

ALTERNATIVE SPLICING; CALPAIN; CELL LINE; EXONS; FEMALE; FIBROBLASTS; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE ORDER; HUMANS; INTRONS; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NUCLEAR PROTEINS; OLIGONUCLEOTIDES, ANTISENSE; REGULATORY SEQUENCES, NUCLEIC ACID; RNA, SMALL NUCLEAR; RNA-BINDING PROTEINS;

EID: 84884530578     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22379     Document Type: Article

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