Affiliation: University of Adelaide
Shoubridge C, Tan M, Seiboth G, Gecz J. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Hum Mol Genet. 2012;21:1639-47 pubmed publisher
..In conclusion, the missense mutations in the ARX homeodomain represent loss-of-function mutations, which lead to a reduced or complete loss of DNA binding and as a consequence, a loss of transcriptional repression. ..
Shoubridge C, Gecz J. Polyalanine tract disorders and neurocognitive phenotypes. Adv Exp Med Biol. 2012;769:185-203 pubmed
..Gaining insights into the mechanisms that underlie the pathogenesis of different expanded polyalanine tract mutations will be a necessary step on the path to the design of potential treatment strategies for the associated diseases. ..
Shoubridge C, Steeb C, Read L. IGFBP mRNA expression in small intestine of rat during postnatal development. Am J Physiol Gastrointest Liver Physiol. 2001;281:G1378-84 pubmed
..Therefore, changes to local IGFBP expression may contribute to the varying response of the rat intestine to IGF-I peptides during postnatal development...
Shoubridge C, Tarpey P, Abidi F, Ramsden S, Rujirabanjerd S, Murphy J, et al
. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet. 2010;42:486-8 pubmed publisher
..In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing. ..
Shoubridge C, Fullston T, Gecz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010;31:889-900 pubmed publisher
Shoubridge C, Gardner A, Schwartz C, Hackett A, Field M, Gecz J. Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?. Eur J Hum Genet. 2012;20:1311-4 pubmed publisher
..429_452dup mutation may be due to asymmetry of meiosis in the oocyte. Our findings may have implications for genetic counselling of families segregating the c.429_452dup mutation and allude to putative role of ARX in oocyte biology. ..
Jackson M, Lee K, Mattiske T, Jaehne E, Ozturk E, Baune B, et al
. Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy. Neurobiol Dis. 2017;105:245-256 pubmed publisher
..The generation of this comprehensive baseline data is a necessary step on the path to the development of therapies to improve patient outcomes. ..
Lee K, Ireland K, Bleeze M, Shoubridge C. ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons. Neuroscience. 2017;357:220-231 pubmed publisher
..Understanding the cellular pathogenesis contributing to disease manifestation is necessary to screen efficacy of potential therapeutic interventions. ..