Functional characterization of the common c.-32-13T>G mutation of GAA gene: Identification of potential therapeutic agents

Nucleic Acids Research

Volumn 42, Issue 2, 2014, Pages 1291-1302

  Dardis, Andrea ^a   Zanin, Irene ^a   Zampieri, Stefania ^a   Stuani, Cristiana ^b   Pianta, Annalisa ^a   Romanello, Milena ^a   Baralle, Francisco E ^b   Bembi, Bruno ^a   Buratti, Emanuele ^b  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE; MESSENGER RNA; MESSENGER RNA PRECURSOR; MUTANT PROTEIN; POLYPYRIMIDINE TRACT BINDING PROTEIN; RESVERATROL; THYMINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SRSF4; TRANSCRIPTION FACTOR U2AF65; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CONTROLLED STUDY; DRUG IDENTIFICATION; EXON; FUNCTIONAL ASSESSMENT; GAA GENE; GENE MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; MUTANT; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CONTENT; PROTEIN FAMILY; RNA SPLICING; SKIN FIBROBLAST;

ALPHA-GLUCOSIDASES; CELLS, CULTURED; EXONS; GLYCOGEN STORAGE DISEASE TYPE II; HELA CELLS; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEINS; HUMANS; MUTATION; NUCLEAR PROTEINS; RIBONUCLEOPROTEINS; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEINS;

EID: 84893211137     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkt987     Document Type: Article

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