Transcription profiling of cultured fibroblastic cell lines from Rett syndrome patients
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Nicolas Cagnard
PROVIDER: E-MEXP-1956 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.
Bedogni Francesco F Bedogni Francesco F Rossi Riccardo L RL Galli Francesco F Cobolli Gigli Clementina C Gandaglia Anna A Kilstrup-Nielsen Charlotte C Landsberger Nicoletta N
Neuroscience and biobehavioral reviews 20140302
Rett syndrome (RTT) is a devastating genetic disorder that worldwide represents the most common genetic cause of severe intellectual disability in females. Most cases are caused by mutations in the X-linked MECP2 gene. Several recent studies have demonstrated that RTT mimicking animal models do not develop an irreversible condition and phenotypic rescue is possible. However, no cure for RTT has been identified so far, and patients are only given symptomatic and supportive treatments. The develop ...[more]
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