title: Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.
abstract: Rubinstein-Taybi syndrome (RTS) is a rare human genetic disorder characterized by mental retardation and physical abnormalities. Many RTS patients have a genetic mutation which has been mapped to chromosome 16p13.3, a genomic region encoding cyclic AMP (cAMP) response element binding protein (CREB) binding protein (CBP). CBP is a transcriptional co-activator that binds to CREB when the latter is phosphorylated and promotes gene transcription. CREB-dependent gene transcription has been shown to underlie long-term memory formation. In this review we will focus on recent findings regarding the biology of CBP and its role in memory formation and cognitive dysfunction in RTS. We will also review the role of CBP in other neurological disorders, including Alzheimer's disease, Huntington's disease and amyotrophic lateral sclerosis. Finally, we will discuss novel therapeutic approaches targeted to CBP/CREB function for treating the cognitive dysfunction of RTS and other neurological disorders.
authors.affiliation: Helicon Therapeutics, Inc., One Bioscience Park Drive, Farmingdale, New York 11735, USA.
authors.forename: T M
authors.initials: TM
authors.lastname: Hallam
authors.forename: R
authors.initials: R
authors.lastname: Bourtchouladze
mesh_terms: D000544:Alzheimer Disease / Q000378:metabolism; D000690:Amyotrophic Lateral Sclerosis / Q000378:metabolism; D000818:Animals; D050882:CREB-Binding Protein / Q000235:genetics / Q000378:metabolism*; D002885:Chromosomes, Human, Pair 16; D003072:Cognition Disorders / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D006816:Huntington Disease / Q000378:metabolism; D009154:Mutation; D010766:Phosphorylation; D012415:Rubinstein-Taybi Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D050882:CREB-Binding Protein