Ontology highlight
ABSTRACT:
SUBMITTER: Pulvers JN
PROVIDER: S-EPMC2944708 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Pulvers Jeremy N JN Bryk Jarosław J Fish Jennifer L JL Wilsch-Bräuninger Michaela M Arai Yoko Y Schreier Dora D Naumann Ronald R Helppi Jussi J Habermann Bianca B Vogt Johannes J Nitsch Robert R Tóth Attila A Enard Wolfgang W Pääbo Svante S Huttner Wieland B WB
Proceedings of the National Academy of Sciences of the United States of America 20100907 38
Mutations in ASPM (abnormal spindle-like microcephaly associated) cause primary microcephaly in humans, a disorder characterized by a major reduction in brain size in the apparent absence of nonneurological anomalies. The function of the Aspm protein in neural progenitor cell expansion, as well as its localization to the mitotic spindle and midbody, suggest that it regulates brain development by a cell division-related mechanism. Furthermore, evidence that positive selection affected ASPM during ...[more]