title: Microcephaly: STIL(l) a tale of too many centrosomes.
abstract: Centrosome mutations associated with microcephaly are normally thought to result in loss-of-function phenotypes. A new study shows, however, that mutations found in the human microcephaly STIL gene cause centrosome amplification, suggesting a direct link between the presence of extra centrosomes and the establishment of this disease.
authors.affiliation: UMR144, CNRS- Institut Curie, 12 rue Lhomond, 75005, Paris, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Marthiens
authors.affiliation: UMR144, CNRS- Institut Curie, 12 rue Lhomond, 75005, Paris, France. Electronic address: renata.basto@curie.fr.
authors.forename: Renata
authors.initials: R
authors.lastname: Basto
mesh_terms: D002502:Centrioles / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000378:metabolism*; D009154:Mutation
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C071236:STIL protein, human