Arx

Summary

Gene Symbol: Arx
Description: aristaless related homeobox
Alias: Arx1, homeobox protein ARX
Species: mouse
Products:     Arx

Top Publications

  1. Ribes V, Balaskas N, Sasai N, Cruz C, Dessaud E, Cayuso J, et al. Distinct Sonic Hedgehog signaling dynamics specify floor plate and ventral neuronal progenitors in the vertebrate neural tube. Genes Dev. 2010;24:1186-200 pubmed publisher
    ..In addition, we provide evidence supporting a common scheme for FP specification by Shh signaling that reconciles mechanisms of FP development in teleosts and amniotes. ..
  2. Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki Migishima R, Umeki Y, et al. Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum Mol Genet. 2009;18:3708-24 pubmed publisher
    b>ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the development of GABAergic and cholinergic neurons in the forebrain...
  3. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet. 2002;11:981-91 pubmed
    ..region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX )...
  4. Olivetti P, Noebels J. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. Curr Opin Neurobiol. 2012;22:859-65 pubmed publisher
    ..A spectrum of mutations in the Aristaless-Related Homeobox gene (ARX) has been linked to ISSX, and downstream targets of this interneuron-expressed transcription factor are being ..
  5. Price M, Yoo J, Burgess D, Deng F, Hrachovy R, Frost J, et al. A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci. 2009;29:8752-63 pubmed publisher
    ..expanding the first polyalanine tract of the interneuron-specific transcription factor Aristaless-related homeobox (ARX) from 16 to 23 alanine codons...
  6. Kitamura K, Miura H, Yanazawa M, Miyashita T, Kato K. Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 and Arx during zona limitans intrathalamica and embryonic ventral lateral geniculate nuclear formation. Mech Dev. 1997;67:83-96 pubmed
    ..The expression of Brx1 along with that of Sonic hedgehog (Shh), Nkx2.2, Dlx1 and Arx was examined at the time of the formation of ZLI in mouse embryos...
  7. Fulp C, Cho G, Marsh E, Nasrallah I, Labosky P, Golden J. Identification of Arx transcriptional targets in the developing basal forebrain. Hum Mol Genet. 2008;17:3740-60 pubmed publisher
    Mutations in the aristaless-related homeobox (ARX) gene are associated with multiple neurologic disorders in humans...
  8. Biressi S, Messina G, Collombat P, Tagliafico E, Monteverde S, Benedetti L, et al. The homeobox gene Arx is a novel positive regulator of embryonic myogenesis. Cell Death Differ. 2008;15:94-104 pubmed
    ..We show here that the homeobox gene Arx is strongly expressed in differentiating embryonic muscle, downstream of myogenic basic helix-loop-helix (bHLH) ..
  9. Colombo E, Collombat P, Colasante G, Bianchi M, Long J, Mansouri A, et al. Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation. J Neurosci. 2007;27:4786-98 pubmed
    b>ARX loss-of-function mutations cause X-linked lissencephaly with ambiguous genitalia (XLAG), a severe neurological condition that results in profound brain malformations, including microcephaly, absence of corpus callosum, and impairment ..

More Information

Publications74

  1. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka Kogo A, Kusaka M, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002;32:359-69 pubmed
    Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx) developed with small brains due to suppressed proliferation and regional deficiencies in the forebrain...
  2. Strømme P, Mangelsdorf M, Shaw M, Lower K, Lewis S, Bruyere H, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002;30:441-5 pubmed
    ..We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including ..
  3. Liu J, Hunter C, Du A, Ediger B, Walp E, Murray J, et al. Islet-1 regulates Arx transcription during pancreatic islet alpha-cell development. J Biol Chem. 2011;286:15352-60 pubmed publisher
    Aristaless related homeodomain protein (Arx) specifies the formation of the pancreatic islet ?-cell during development...
  4. Artner I, Blanchi B, Raum J, Guo M, Kaneko T, Cordes S, et al. MafB is required for islet beta cell maturation. Proc Natl Acad Sci U S A. 2007;104:3853-8 pubmed
    ..These results demonstrate that MafB plays a previously uncharacterized role by regulating transcription of key factors during development that are required for the production of mature alpha and beta cells. ..
  5. Collombat P, Hecksher Sørensen J, Krull J, Berger J, Riedel D, Herrera P, et al. Embryonic endocrine pancreas and mature beta cells acquire alpha and PP cell phenotypes upon Arx misexpression. J Clin Invest. 2007;117:961-70 pubmed
    Aristaless-related homeobox (Arx) was recently demonstrated to be involved in pancreatic alpha cell fate specification while simultaneously repressing the beta and delta cell lineages...
  6. Collombat P, Mansouri A, Hecksher Sorensen J, Serup P, Krull J, Gradwohl G, et al. Opposing actions of Arx and Pax4 in endocrine pancreas development. Genes Dev. 2003;17:2591-603 pubmed
    ..One such transcription factor, Arx, exhibits Ngn3-dependent expression throughout endocrine pancreas development in alpha, beta-precursor, and delta ..
  7. Friocourt G, Kanatani S, Tabata H, Yozu M, Takahashi T, Antypa M, et al. Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J Neurosci. 2008;28:5794-805 pubmed publisher
    The aristaless-related homeobox (ARX) gene has been implicated in a wide spectrum of disorders ranging from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild forms of X-linked mental retardation without ..
  8. Yang Y, Thorel F, Boyer D, Herrera P, Wright C. Context-specific ?- to-?-cell reprogramming by forced Pdx1 expression. Genes Dev. 2011;25:1680-5 pubmed publisher
    ..More surprisingly, almost all remaining Pdx1-containing glucagon/Arx-producing cells underwent a fairly rapid conversion at postnatal stages, through glucagon-insulin double positivity,..
  9. Marsh E, Fulp C, Gomez E, Nasrallah I, Minarcik J, Sudi J, et al. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain. 2009;132:1563-76 pubmed publisher
    Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to structural brain anomalies as well as multiple neurocognitive deficits...
  10. Colasante G, Collombat P, Raimondi V, Bonanomi D, Ferrai C, Maira M, et al. Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons. J Neurosci. 2008;28:10674-86 pubmed publisher
    The Arx transcription factor is expressed in the developing ventral telencephalon and subsets of its derivatives. Mutation of human ARX ortholog causes neurological disorders including epilepsy, lissencephaly, and mental retardation...
  11. CHAO C, Loomis Z, Lee J, Sussel L. Genetic identification of a novel NeuroD1 function in the early differentiation of islet alpha, PP and epsilon cells. Dev Biol. 2007;312:523-32 pubmed
    ..Furthermore, this study reveals a previously unappreciated early function of NeuroD1 in regulating the specification of alpha, PP and epsilon cells. ..
  12. Du A, McCracken K, Walp E, Terry N, Klein T, Han A, et al. Arx is required for normal enteroendocrine cell development in mice and humans. Dev Biol. 2012;365:175-88 pubmed publisher
    ..Here we show that Arx, a homeodomain-containing transcription factor, is required for the normal development of mouse and human ..
  13. Miura H, Yanazawa M, Kato K, Kitamura K. Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev. 1997;65:99-109 pubmed
    ..This gene was designated Arx (aristaless related homeobox gene) in consideration of its structural similarity to the al gene...
  14. Dhawan S, Georgia S, Tschen S, Fan G, Bhushan A. Pancreatic ? cell identity is maintained by DNA methylation-mediated repression of Arx. Dev Cell. 2011;20:419-29 pubmed publisher
    ..We identified the lineage determination gene aristaless-related homeobox (Arx), as methylated and repressed in ? cells, and hypomethylated and expressed in ? cells and Dnmt1-deficient ? cells...
  15. Heller R, Jenny M, Collombat P, Mansouri A, Tomasetto C, Madsen O, et al. Genetic determinants of pancreatic epsilon-cell development. Dev Biol. 2005;286:217-24 pubmed
    ..cells is differentially regulated during pancreas morphogenesis by the homeodomain-containing transcription factors Arx, Pax4, and Pax6...
  16. Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, et al. Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res. 2004;122:35-46 pubmed
    Recent human genetics approaches identified the Aristaless-related homeobox (ARX) gene as the causative gene in X-linked infantile spasms, Partington syndrome, and non-syndromic mental retardation as well as in forms of lissencephaly ..
  17. Nasrallah M, Cho G, Simonet J, Putt M, Kitamura K, Golden J. Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression. Hum Mol Genet. 2012;21:1090-8 pubmed publisher
    ..the role of this mutation type, we investigated the change in functional properties of the transcription factor Arx when it has an expanded poly-A tract (Arx(E)), a mutation associated with infantile spasms and intellectual ..
  18. Cobos I, Broccoli V, Rubenstein J. The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain. J Comp Neurol. 2005;483:292-303 pubmed
    ..One candidate is the Aristaless (Arx) homeobox gene, which lies genetically downstream of the fly Dlx gene (Distal-less, Dll)...
  19. Beucher A, Gjernes E, Collin C, Courtney M, Meunier A, Collombat P, et al. The homeodomain-containing transcription factors Arx and Pax4 control enteroendocrine subtype specification in mice. PLoS ONE. 2012;7:e36449 pubmed publisher
    ..In contrast, in the embryonic pancreas, the opposite activities of Arx and Pax4 homeodomain transcription factors promote islet progenitor cells towards the different endocrine cell ..
  20. Courtney M, Gjernes E, Druelle N, Ravaud C, Vieira A, Ben Othman N, et al. The inactivation of Arx in pancreatic ?-cells triggers their neogenesis and conversion into functional ?-like cells. PLoS Genet. 2013;9:e1003934 pubmed publisher
    ..combining conditional loss-of-function and lineage tracing approaches, we show that the selective inhibition of the Arx gene in ?-cells is sufficient to promote the conversion of adult ?-cells into ?-like cells at any age...
  21. Wang Q, Elghazi L, Martin S, Martins I, Srinivasan R, Geng X, et al. Ghrelin is a novel target of Pax4 in endocrine progenitors of the pancreas and duodenum. Dev Dyn. 2008;237:51-61 pubmed
    ..Together, our data further support the notion that Pax4 activity is necessary to establish appropriate patterns of gene expression in endocrine progenitors of the digestive tract. ..
  22. McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, et al. Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience. 2007;146:236-47 pubmed
    Aristaless-related homeobox gene (ARX) is an important paired-type homeobox gene involved in the development of human brain...
  23. Yoshihara S, Omichi K, Yanazawa M, Kitamura K, Yoshihara Y. Arx homeobox gene is essential for development of mouse olfactory system. Development. 2005;132:751-62 pubmed
    ..We report here crucial roles of the Arx homeobox gene in the developing olfactory system by analyzing its mutant phenotypes...
  24. Papizan J, Singer R, Tschen S, Dhawan S, Friel J, Hipkens S, et al. Nkx2.2 repressor complex regulates islet ?-cell specification and prevents ?-to-?-cell reprogramming. Genes Dev. 2011;25:2291-305 pubmed publisher
    ..2 preferentially recruits Grg3 and HDAC1 to the methylated Aristaless homeobox gene (Arx) promoter in ? cells. The Nkx2...
  25. Wilcox C, Terry N, Walp E, Lee R, MAY C. Pancreatic ?-cell specific deletion of mouse Arx leads to ?-cell identity loss. PLoS ONE. 2013;8:e66214 pubmed publisher
    ..In the pancreas, Aristaless-related homeobox gene (Arx) is expressed first in the endocrine progenitors and then restricted to glucagon-producing ?-cells...
  26. Collombat P, Hecksher Sørensen J, Broccoli V, Krull J, Ponte I, Mundiger T, et al. The simultaneous loss of Arx and Pax4 genes promotes a somatostatin-producing cell fate specification at the expense of the alpha- and beta-cell lineages in the mouse endocrine pancreas. Development. 2005;132:2969-80 pubmed
    ..In the present study, we uncover the molecular consequences of the simultaneous depletion of Arx and Pax4 activity during pancreas development...
  27. Lee K, Mattiske T, Kitamura K, Gecz J, Shoubridge C. Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. Hum Mol Genet. 2014;23:1084-94 pubmed publisher
    ..The Aristaless-related homeobox gene (ARX) is a frequently mutated X-linked ID gene and encodes a transcription factor indispensable for proper forebrain, ..
  28. Tang H, Brennan J, Karl J, Hamada Y, Raetzman L, Capel B. Notch signaling maintains Leydig progenitor cells in the mouse testis. Development. 2008;135:3745-53 pubmed publisher
  29. Cruz C, Ribes V, Kutejova E, Cayuso J, Lawson V, Norris D, et al. Foxj1 regulates floor plate cilia architecture and modifies the response of cells to sonic hedgehog signalling. Development. 2010;137:4271-82 pubmed publisher
  30. Cunningham D, Xiao Q, Chatterjee A, Sulik K, Juriloff D, Elder F, et al. exma: an X-linked insertional mutation that disrupts forebrain and eye development. Mamm Genome. 2002;13:179-85 pubmed
    ..was assembled by using sequences flanking the transgene and revealed that the insertion lies close to Pola1 and Arx, a gene encoding a highly conserved homeobox protein known to be expressed in the developing forebrain of the mouse...
  31. Colasante G, Sessa A, Crispi S, Calogero R, Mansouri A, Collombat P, et al. Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. Dev Biol. 2009;334:59-71 pubmed publisher
    The homeobox-containing gene Arx is expressed during ventral telencephalon development and required for correct GABAergic interneuron tangential migration from the ganglionic eminences to the olfactory bulbs, cerebral cortex and striatum...
  32. Colombo E, Galli R, Cossu G, Gecz J, Broccoli V. Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Dev Dyn. 2004;231:631-9 pubmed
    Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are ..
  33. Hancock A, Du A, Liu J, Miller M, MAY C. Glucagon deficiency reduces hepatic glucose production and improves glucose tolerance in adult mice. Mol Endocrinol. 2010;24:1605-14 pubmed publisher
    ..and glucose homeostasis, we derived mice with a pancreas specific ablation of the alpha-cell transcription factor, Arx, resulting in a complete loss of the glucagon-producing pancreatic alpha-cell...
  34. Meijlink F, Beverdam A, Brouwer A, Oosterveen T, Berge D. Vertebrate aristaless-related genes. Int J Dev Biol. 1999;43:651-63 pubmed
  35. Marsh E, Nasrallah M, Walsh C, Murray K, Nicole Sunnen C, McCoy A, et al. Developmental interneuron subtype deficits after targeted loss of Arx. BMC Neurosci. 2016;17:35 pubmed publisher
    Aristaless-related homeobox (ARX) is a paired-like homeodomain transcription factor that functions primarily as a transcriptional repressor and has been implicated in neocortical interneuron specification and migration...
  36. Mizuguchi R, Naritsuka H, Mori K, Mao C, Klein W, Yoshihara Y. Tbr2 deficiency in mitral and tufted cells disrupts excitatory-inhibitory balance of neural circuitry in the mouse olfactory bulb. J Neurosci. 2012;32:8831-44 pubmed publisher
  37. Chakravarthy H, Gu X, Enge M, Dai X, Wang Y, Damond N, et al. Converting Adult Pancreatic Islet α Cells into β Cells by Targeting Both Dnmt1 and Arx. Cell Metab. 2017;25:622-634 pubmed publisher
    ..We show that the α cell regulators Aristaless-related homeobox (Arx) and DNA methyltransferase 1 (Dnmt1) maintain α cell identity in mice...
  38. Du A, Hunter C, Murray J, Noble D, Cai C, Evans S, et al. Islet-1 is required for the maturation, proliferation, and survival of the endocrine pancreas. Diabetes. 2009;58:2059-69 pubmed publisher
    ..These results demonstrate the requirement for Isl-1 in the maturation, proliferation, and survival of the second wave of hormone-producing islet cells. ..
  39. Kataoka A, Shimogori T. Fgf8 controls regional identity in the developing thalamus. Development. 2008;135:2873-81 pubmed publisher
    ..These findings suggest conserved roles of FGF signaling in patterning along the A/P axis in CNS, and reveal mechanisms of nucleogenesis in the developing thalamus. ..
  40. Yang Y, Magnuson M, Stein R, Wright C. The mammal-specific Pdx1 Area II enhancer has multiple essential functions in early endocrine cell specification and postnatal β-cell maturation. Development. 2017;144:248-257 pubmed publisher
    ..cells, associated with the transcriptional and epigenetic derepression of the α-cell-determining Arx gene in endocrine progenitors...
  41. Bourgeois E, Johnson B, Mccoy A, Trippa L, Cohen A, Marsh E. A toolbox for spatiotemporal analysis of voltage-sensitive dye imaging data in brain slices. PLoS ONE. 2014;9:e108686 pubmed publisher
    ..to identify functional differences in activity in VSDI data from acute hippocampal slices obtained from epileptic Arx conditional knock-out and control mice...
  42. 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
    The Aristaless-related homeobox gene (ARX) is indispensable for interneuron development...
  43. Miyabayashi K, Katoh Fukui Y, Ogawa H, Baba T, Shima Y, Sugiyama N, et al. Aristaless related homeobox gene, Arx, is implicated in mouse fetal Leydig cell differentiation possibly through expressing in the progenitor cells. PLoS ONE. 2013;8:e68050 pubmed publisher
    ..Previously, we demonstrated that the Arx gene is implicated in this process. However, how ARX regulates Leydig cell differentiation remained unknown...
  44. Taroc E, Prasad A, Lin J, Forni P. The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs. Biol Open. 2017;6:1552-1568 pubmed publisher
    ..Loss-of-function of the Arx-1 homeobox gene leads to the lack of proper formation of the OBs with abnormal axonal termination of olfactory ..
  45. Schaffer A, Taylor B, Benthuysen J, Liu J, Thorel F, Yuan W, et al. Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity. PLoS Genet. 2013;9:e1003274 pubmed publisher
    ..By showing that Nkx6.1 binds to and represses the alpha cell determinant Arx, we identify Arx as a direct target of Nkx6.1. Moreover, we demonstrate that Nkx6...
  46. Visel A, Taher L, Girgis H, May D, Golonzhka O, Hoch R, et al. A high-resolution enhancer atlas of the developing telencephalon. Cell. 2013;152:895-908 pubmed publisher
    ..These data provide a primary resource for investigating gene regulatory mechanisms of telencephalon development and enable studies of the role of distant-acting enhancers in neurodevelopmental disorders. ..
  47. Chou S, Perez Garcia C, Kroll T, O Leary D. Lhx2 specifies regional fate in Emx1 lineage of telencephalic progenitors generating cerebral cortex. Nat Neurosci. 2009;12:1381-9 pubmed publisher
    ..These findings establish a genetic mechanism for determining regional-fate in the Emx1 lineage of telencephalic progenitors that generate cerebral cortex. ..
  48. Ejarque M, Mir Coll J, Gomis R, German M, Lynn F, Gasa R. Generation of a Conditional Allele of the Transcription Factor Atonal Homolog 8 (Atoh8). PLoS ONE. 2016;11:e0146273 pubmed publisher
  49. Andrews W, Barber M, Hernadez Miranda L, Xian J, Rakic S, Sundaresan V, et al. The role of Slit-Robo signaling in the generation, migration and morphological differentiation of cortical interneurons. Dev Biol. 2008;313:648-58 pubmed
  50. Cho G, Lim Y, Cho I, Simonet J, Golden J. Arx together with FoxA2, regulates Shh floor plate expression. Dev Biol. 2014;393:137-48 pubmed publisher
    Mutations in the Aristaless related homeodomain transcription factor (ARX) are associated with a diverse set of X-linked mental retardation and epilepsy syndromes in humans...
  51. Stasiulewicz M, Gray S, Mastromina I, Silva J, Björklund M, Seymour P, et al. A conserved role for Notch signaling in priming the cellular response to Shh through ciliary localisation of the key Shh transducer Smo. Development. 2015;142:2291-303 pubmed publisher
    ..These data identify Notch signalling as a novel modulator of Shh signalling that acts mechanistically via regulation of ciliary localisation of key components of its transduction machinery. ..
  52. Szabó N, Zhao T, Cankaya M, Stoykova A, Zhou X, Alvarez Bolado G. Interaction between axons and specific populations of surrounding cells is indispensable for collateral formation in the mammillary system. PLoS ONE. 2011;6:e20315 pubmed publisher
    ..Additionally, we provide insight on the cooperative transcriptional regulation necessary to promote and organize an intricate axonal tree. ..
  53. Cho I, Lim Y, Golden J, Cho G. Aristaless Related Homeobox (ARX) Interacts with ?-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling. PLoS ONE. 2017;12:e0170282 pubmed publisher
    Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders...
  54. Dames P, Puff R, Weise M, Parhofer K, Goke B, Gotz M, et al. Relative roles of the different Pax6 domains for pancreatic alpha cell development. BMC Dev Biol. 2010;10:39 pubmed publisher
    ..This function is differentially affected by the two homeodomain mutations analyzed in this study. ..
  55. Hirata T, Nakazawa M, Yoshihara S, Miyachi H, Kitamura K, Yoshihara Y, et al. Zinc-finger gene Fez in the olfactory sensory neurons regulates development of the olfactory bulb non-cell-autonomously. Development. 2006;133:1433-43 pubmed
    ..These findings suggest that signals from olfactory sensory neurons contribute to the proper formation of the olfactory bulb. ..
  56. Arnés L, Akerman I, Balderes D, Ferrer J, Sussel L. βlinc1 encodes a long noncoding RNA that regulates islet β-cell formation and function. Genes Dev. 2016;30:502-7 pubmed publisher
    ..Furthermore, deletion of βlinc1 results in defective islet development and disruption of glucose homeostasis in adult mice. ..
  57. Churchill A, Gutiérrez G, Singer R, Lorberbaum D, Fischer K, Sussel L. Genetic evidence that Nkx2.2 acts primarily downstream of Neurog3 in pancreatic endocrine lineage development. elife. 2017;6: pubmed publisher
    ..Consistently, we demonstrate Nkx2.2 functions as an integral component of a modular regulatory program to correctly specify pancreatic islet cell fates. ..
  58. Piccand J, Meunier A, Merle C, Jia Z, Barnier J, Gradwohl G. Pak3 promotes cell cycle exit and differentiation of ?-cells in the embryonic pancreas and is necessary to maintain glucose homeostasis in adult mice. Diabetes. 2014;63:203-15 pubmed publisher
    ..In the adult, Pak3 is required for the proper control of glucose homeostasis under challenging HFD. ..
  59. Suissa Y, Magenheim J, Stolovich Rain M, Hija A, Collombat P, Mansouri A, et al. Gastrin: a distinct fate of neurogenin3 positive progenitor cells in the embryonic pancreas. PLoS ONE. 2013;8:e70397 pubmed publisher
    ..2, NeuroD1 and Arx, but not Pax4 or Pax6...
  60. Lin W, Ye W, Cai L, Meng X, Ke G, Huang C, et al. The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein. J Biol Chem. 2009;284:20428-39 pubmed publisher
    ..Some cargoes display more than a single NLS, and among these are homeodomain proteins such as Arx, which is critical for development of multiple tissues. Arx has two functional NLSs...
  61. Ye W, Lin W, Tartakoff A, Ma Q, Tao T. Nuclear import of aristaless-related homeobox protein via its NLS1 regulates its transcriptional function. Mol Cell Biochem. 2013;381:221-31 pubmed publisher
    ..We previously reported the presence of two functional NLSs in the homeodomain protein, aristaless-related homeobox (Arx) protein, which is a key transcriptional repressor of LMO1, SHOX2, and PAX4 during development...
  62. Zhao Y, Flandin P, Vogt D, Blood A, Hermesz E, Westphal H, et al. Ldb1 is essential for development of Nkx2.1 lineage derived GABAergic and cholinergic neurons in the telencephalon. Dev Biol. 2014;385:94-106 pubmed publisher
    ..These results provide evidence that Ldb1 plays an essential role as a transcription co-regulator of Lhx6 and Lhx8 in the control of mammalian telencephalon development. ..
  63. Olivetti P, Maheshwari A, Noebels J. Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. Sci Transl Med. 2014;6:220ra12 pubmed publisher
    Infantile spasms are a catastrophic form of pediatric epilepsy with inadequate treatment. In patients, mutation of ARX, a transcription factor selectively expressed in neuronal precursors and adult inhibitory interneurons, impairs cell ..
  64. Beguin S, Crepel V, Aniksztejn L, Becq H, Pelosi B, Pallesi Pocachard E, et al. An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development. Cereb Cortex. 2013;23:1484-94 pubmed publisher
    ..Here, we studied the impact of a polyalanine expansion of aristaless-related homeobox (ARX) gene, a mutation notably found in West and Ohtahara syndromes...
  65. Marsh E, Golden J. Developing an animal model for infantile spasms: pathogenesis, problems and progress. Dis Model Mech. 2009;2:329-35 pubmed publisher
    ..Finally, we will discuss the limitations of these models and the potential avenues for future research on IS. ..