Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Ingrid van der Pluijm
PROVIDER: E-MEXP-835 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
van der Pluijm Ingrid I Garinis George A GA Brandt Renata M C RM Gorgels Theo G M F TG Wijnhoven Susan W SW Diderich Karin E M KE de Wit Jan J Mitchell James R JR van Oostrom Conny C Beems Rudolf R Niedernhofer Laura J LJ Velasco Susana S Friedberg Errol C EC Tanaka Kiyoji K van Steeg Harry H Hoeijmakers Jan H J JH van der Horst Gijsbertus T J GT
PLoS biology 20070101 1
Cockayne syndrome (CS) is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER). Here, complete inactivation of NER in Csb(m/m)/Xpa(-/-) mutants causes a phenotype that reliably mimics the human progeroid CS syndrome. Newborn Csb(m/m)/Xpa(-/-) mice display attenuated growth, progressive neurological dysfunction, retinal degeneration, cachexia, kyphosis, and die before weaning. M ...[more]