Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

Human Mutation

Volumn 32, Issue 9, 2011, Pages 1019-1027

  Brasil, Sandra ^a,b   Viecelli, Hiu Man ^c   Meili, David ^c   Rassi, Anahita ^c   Desviat, Lourdes R ^a   Pérez, Belen ^a   Ugarte, Magdalena ^a   Thöny, Beat ^c,d  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Alternative splicing; Antisense oligonucleotides; Pseudoexons; Splicing therapy; Tetrahydrobiopterin deficiency

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; ANTISENSE MORPHOLINO OLIGONUCLEOTIDE 1; ANTISENSE MORPHOLINO OLIGONUCLEOTIDE 2; ANTISENSE MORPHOLINO OLIGONUCLEOTIDE 3; ANTISENSE OLIGODEOXYNUCLEOTIDE; UNCLASSIFIED DRUG;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; ANTISENSE THERAPY; ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; EX VIVO STUDY; EXON; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTRON; NEWBORN; PRIORITY JOURNAL; RNA SPLICING;

ALU ELEMENTS; BASE SEQUENCE; BIOPTERIN; CELLS, CULTURED; EXONS; FIBROBLASTS; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; NEOPTERIN; OLIGONUCLEOTIDES, ANTISENSE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; RNA SPLICING; TRANSCRIPTOME;

EID: 79960348053     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21529     Document Type: Article

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