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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.

Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T, Gécz J.

Pathogenetics. 2010 Jan 5;3:1.PMID: 20148114 [PubMed]Free PMC ArticleFree textRelated citations

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gécz J.

Genomics. 2007 Jul;90(1):59-71. Epub 2007 May 9.PMID: 17490853 [PubMed - indexed for MEDLINE]Related citations

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.

McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, Stifani S, Gécz J, Broccoli V.

Neuroscience. 2007 Apr 25;146(1):236-47. Epub 2007 Feb 27.PMID: 17331656 [PubMed - indexed for MEDLINE]Related citations

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB.

Hum Mutat. 2004 Feb;23(2):147-59.PMID: 14722918 [PubMed - indexed for MEDLINE]Related citations

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Fullston T, Brueton L, Willis T, Philip S, MacPherson L, Finnis M, Gecz J, Morton J.

Eur J Hum Genet. 2010 Feb;18(2):157-62. Epub 2009 Sep 9.PMID: 19738637 [PubMed - indexed for MEDLINE]Related citations

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.

Sherr EH.

Curr Opin Pediatr. 2003 Dec;15(6):567-71. Review.PMID: 14631200 [PubMed - indexed for MEDLINE]Related citations

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

Troester MM, Trachtenberg T, Narayanan V.

J Child Neurol. 2007 Jun;22(6):744-8.PMID: 17641262 [PubMed - indexed for MEDLINE]Related citations

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C, Fullston T, Gécz J.

Hum Mutat. 2010 Aug;31(8):889-900.PMID: 20506206 [PubMed - in process]Related citations

The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein.

Lin W, Ye W, Cai L, Meng X, Ke G, Huang C, Peng Z, Yu Y, Golden JA, Tartakoff AM, Tao T.

J Biol Chem. 2009 Jul 24;284(30):20428-39. Epub 2009 Jun 3.PMID: 19494118 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT.

Am J Med Genet A. 2009 Jul;149A(7):1482-6.PMID: 19507262 [PubMed - indexed for MEDLINE]Related citations

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.

Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC.

Neurology. 2002 Aug 13;59(3):348-56.PMID: 12177367 [PubMed - indexed for MEDLINE]Related citations

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.

Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K, Goto Y.

Hum Mol Genet. 2009 Oct 1;18(19):3708-24. Epub 2009 Jul 15.PMID: 19605412 [PubMed - indexed for MEDLINE]Related citations

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.

Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T, Chelly J.

Brain Res Mol Brain Res. 2004 Mar 17;122(1):35-46.PMID: 14992814 [PubMed - indexed for MEDLINE]Related citations

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB.

Neurology. 2007 Jul 31;69(5):427-33.PMID: 17664401 [PubMed - indexed for MEDLINE]Related citations

ARX mutations in X-linked lissencephaly with abnormal genitalia.

Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J.

Neurology. 2003 Jul 22;61(2):232-5.PMID: 12874405 [PubMed - indexed for MEDLINE]Related citations

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J.

Brain Dev. 2002 Aug;24(5):266-8.PMID: 12142061 [PubMed - indexed for MEDLINE]Related citations

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).

Okazaki S, Ohsawa M, Kuki I, Kawawaki H, Koriyama T, Ri S, Ichiba H, Hai E, Inoue T, Nakamura H, Goto Y, Tomiwa K, Yamano T, Kitamura K, Itoh M.

Acta Neuropathol. 2008 Oct;116(4):453-62. Epub 2008 May 6.PMID: 18458920 [PubMed - indexed for MEDLINE]Related citations

A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.

Nasrallah IM, Minarcik JC, Golden JA.

J Cell Biol. 2004 Nov 8;167(3):411-6.PMID: 15533998 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

A new paradigm for West syndrome based on molecular and cell biology.

Kato M.

Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. Epub 2006 Jun 23. Review.PMID: 16806828 [PubMed - indexed for MEDLINE]Related citations

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T.

Neurogenetics. 2006 Mar;7(1):39-46. Epub 2005 Oct 19.PMID: 16235064 [PubMed - indexed for MEDLINE]Related citations