Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 6, 2013, Pages 2366-2370

  Sathasivam, Kirupa ^a   Neueder, Andreas ^a   Gipson, Theresa A ^b   Landles, Christian ^a   Benjamin, Agnesska C ^a   Bondulich, Marie K ^a   Smith, Donna L ^a   Faull, Richard L M ^c   Roos, Raymund A C ^d   Howland, David ^e   Detloff, Peter J ^f   Housman, David E ^b   Bates, Gillian P ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e CHDI MANAGEMENT CHDI FOUNDATION   (United States)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Exon 1 huntingtin; Huntingtin fragment; Mis splicing; SRSF6

Indexed keywords

EXON 1 PROTEIN; HUNTINGTIN; MESSENGER RNA; POLYGLUTAMINE; PROTEIN; PROTEINASE; UNCLASSIFIED DRUG;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CAG REPEAT; CONTROLLED STUDY; ENZYME METABOLISM; EXON; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HUNTINGTON CHOREA; INTRON; MOLECULAR PATHOLOGY; MOUSE; NONHUMAN; PATHOGENICITY; POLYADENYLATION; PRIORITY JOURNAL; PROTEIN PROCESSING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION;

ANIMALS; BASE SEQUENCE; BRAIN; DISEASE MODELS, ANIMAL; EXONS; HUMANS; HUNTINGTON DISEASE; MICE; MICE, INBRED C57BL; MICE, INBRED CBA; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 84873463075     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1221891110     Document Type: Article

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