Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

BACKGROUND: Aristaless related homeobox (ARX) is a paired-type homeobox gene. ARX function is frequently affected by naturally occurring mutations. Nonsense mutations, polyalanine tract expansions and missense mutations in ARX cause a range of intellectual disability and epilepsy phenotypes with or...

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Detalhes bibliográficos
Main Authors: Shoubridge, Cheryl, Tan, May Huey, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia M, Kleefstra, Tjitske, Gécz, Jozef
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2819251/
https://ncbi.nlm.nih.gov/pubmed/20148114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8417-3-1
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