Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

Molecular Neurodegeneration

Volumn 6, Issue 1, 2011, Pages

  Yin, Jun ^a,c   Brocher, Jan ^a,d   Fischer, Utz ^b   Winkler, Christoph ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

AD5 mutation; apoptosis; dominant negative; haploinsufficiency; PRPF31; Retinitis pigmentosa (RP); rod degeneration; SP117 mutation; splicing defect

Indexed keywords

AD5 PROTEIN; MUTANT PROTEIN; PRPF31 PROTEIN; SP117 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL MODEL; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL NUCLEUS; CONTROLLED STUDY; CYTOPLASM; EMBRYO; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; HAPLOINSUFFICIENCY; IN VIVO STUDY; LETHALITY; NONHUMAN; PHOTORECEPTOR CELL; PROTEIN EXPRESSION; RETINA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; RNA SPLICING; WILD TYPE; ZEBRA FISH;

ANIMALIA; DANIO RERIO;

EID: 79960854995     PISSN: None     EISSN: 17501326     Source Type: Journal    
DOI: 10.1186/1750-1326-6-56     Document Type: Article

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