%0 Journal Article
%T Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization
%A Sybille Krau£¿
%A Joyce So
%A Melanie Hambrock
%A Andrea K£¿hler
%A Melanie Kunath
%A Constance Scharff
%A Martina Wessling
%A Karl-Heinz Grzeschik
%A Rainer Schneider
%A Susann Schweiger
%J PLOS ONE
%D 2012
%I Public Library of Science (PLoS)
%R 10.1371/journal.pone.0007471
%X Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrome (PHS). Mutations that lead to loss of function of the protein and to haploinsufficiency cause GCPS, while truncating mutations that result in constitutive repressor function of GLI3 lead to PHS. As an exception, some point mutations in the C-terminal part of GLI3 observed in GCPS patients have so far not been linked to loss of function. We have shown recently that protein phosphatase 2A (PP2A) regulates the nuclear localization and transcriptional activity a of GLI3 function.
%U http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0007471