SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site

Human Mutation

Volumn 32, Issue 2, 2011, Pages 220-230

  Koed Doktor, Thomas ^a,b,c   Schroeder, Lisbeth Dahl ^b,c   Vested, Anne ^b   Palmfeldt, Johan ^b   Andersen, Henriette Skovgaard ^a   Gregersen, Niels ^b   Andresen, Brage Storstein ^a  

^a UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

Author keywords

ESS; Exon skipping; Exonic splicing silencer; HnRNP A1; SMN1; SMN2; Splicing

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; DNA SEQUENCE; EXON; GENE MUTATION; GENOMICS; HUMAN; HUMAN CELL; HUMAN GENOME; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN MOTIF; RNA SPLICING;

BASE SEQUENCE; CELL LINE; EXONS; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; HUMANS; MOLECULAR SEQUENCE DATA; REGULATORY SEQUENCES, NUCLEIC ACID; RNA SPLICE SITES; RNA SPLICING; SEQUENCE ALIGNMENT; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 79551539775     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21419     Document Type: Article

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