Filamins in cardiovascular development.
Filamins are classically recognized as large cytoplasmic proteins that cross-link cortical actin into dynamic 3-dimensional structures and transmit extracellular signals through integrin receptors into the cytoplasm. However, recent reports indicate that filamins interact with a large number of other proteins with diverse functions, including transcriptional factors and cellular molecules involved in signaling, adhesion, and cellular motility, and are also present in the cell nucleus. In addition, genetic mutations in filamins have been linked to a wide range of human genetic disorders, including skeletal, central nervous system, and cardiovascular malformations, highlighting distinct filamin interactions. Here, we update the cardiovascular phenotypes of patients with mutations in filamin genes and mice deficient in filamins and filamin-interacting proteins.
Zhou
Xianghua
X
Sahlgrenska Center for Cardiovascular and Metabollic Research, Wallenberg Laboratory, SE-413 45 Göteborg, Sweden.
Borén
Jan
J
Akyürek
Levent M
LM
D000199:Actins; D018376:Cardiovascular Abnormalities; D002318:Cardiovascular Diseases / Q000235:genetics* / Q000503:physiopathology; D002319:Cardiovascular System / Q000254:growth & development*; D003285:Contractile Proteins / Q000235:genetics / Q000502:physiology*; D064448:Filamins; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics / Q000502:physiology*; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors; D015398:Signal Transduction / Q000502:physiology*
D000199:Actins; D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins