The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

Molecular Genetics and Metabolism

Volumn 119, Issue 3, 2016, Pages 258-269

  Palhais, Bruno ^a   Dembic, Maja ^a   Sabaratnam, Rugivan ^a   Nielsen, Kira S ^a   Doktor, Thomas Koed ^a   Bruun, Gitte Hoffmann ^a   Andresen, Brage Storstein ^a  

^a UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

ESE; ESS; Fabry disease; GLA; hnRNP A1 hnRNP A2 B1; hnRNP F H; Pseudoexon; Splice switching oligonucleotide (SSO)

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN B1; SMALL NUCLEAR RIBONUCLEOPROTEIN; UNCLASSIFIED DRUG; ALPHA GALACTOSIDASE; ALPHA-GALACTOSIDASE A, HUMAN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN GROUP A B; HNRPA1 PROTEIN, HUMAN; MESSENGER RNA;

ARTICLE; CONTROLLED STUDY; EXON; EXONIC SPLICING SILENCER; FABRY DISEASE; FEASIBILITY STUDY; GENE ACTIVATION; GENE INACTIVATION; GENE MUTATION; GENE SILENCING; GENETIC TRANSCRIPTION; HUMAN; INTRON; PRIORITY JOURNAL; PROTEIN BINDING; RNA SPLICING; GENETICS; HELA CELL LINE; MUTATION; PATHOLOGY; RNA SPLICE SITE; SILENCER ELEMENT;

ALPHA-GALACTOSIDASE; EXONS; FABRY DISEASE; HELA CELLS; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; HUMANS; INTRONS; MUTATION; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; SILENCER ELEMENTS, TRANSCRIPTIONAL;

EID: 84992665658     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.08.007     Document Type: Article

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