Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to
structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx …
structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx …
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
K Kitamura, Y Itou, M Yanazawa… - Human molecular …, 2009 - academic.oup.com
ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the
development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations …
development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations …
Identification of Arx transcriptional targets in the developing basal forebrain
CT Fulp, G Cho, ED Marsh, IM Nasrallah… - Human molecular …, 2008 - academic.oup.com
Mutations in the aristaless-related homeobox (ARX) gene are associated with multiple
neurologic disorders in humans. Studies in mice indicate Arx plays a role in neuronal …
neurologic disorders in humans. Studies in mice indicate Arx plays a role in neuronal …
ARX Regulates Cortical Intermediate Progenitor Cell Expansion and Upper Layer Neuron Formation Through Repression of Cdkn1c
G Colasante, JC Simonet, R Calogero, S Crispi… - Cerebral …, 2015 - academic.oup.com
Mutations in the Aristaless-related homeobox (ARX) gene are found in a spectrum of
epilepsy and X-linked intellectual disability disorders. During development Arx is expressed …
epilepsy and X-linked intellectual disability disorders. During development Arx is expressed …
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms
PR Olivetti, JL Noebels - Current opinion in neurobiology, 2012 - Elsevier
X-linked Infantile Spasms Syndrome (ISSX) is a catastrophic epilepsy of early childhood with
intractable seizures, intellectual disability, and poor prognosis. A spectrum of mutations in …
intractable seizures, intellectual disability, and poor prognosis. A spectrum of mutations in …
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
K Kitamura, M Yanazawa, N Sugiyama, H Miura… - Nature …, 2002 - nature.com
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 …
developed with small brains due to suppressed proliferation and regional deficiencies in the …
[HTML][HTML] Mutations in ARX result in several defects involving GABAergic neurons
G Friocourt, JG Parnavelas - Frontiers in cellular neuroscience, 2010 - frontiersin.org
Genetic investigations of X-linked mental retardation have demonstrated the implication of
ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal …
ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal …
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
P Strømme, ME Mangelsdorf, MA Shaw, KM Lower… - Nature …, 2002 - nature.com
Mental retardation and epilepsy often occur together. They are both heterogeneous
conditions with acquired and genetic causes. Where causes are primarily genetic, major …
conditions with acquired and genetic causes. Where causes are primarily genetic, major …
Developmental interneuron subtype deficits after targeted loss of Arx
ED Marsh, MLP Nasrallah, C Walsh, KA Murray… - BMC neuroscience, 2016 - Springer
Background Aristaless-related homeobox (ARX) is a paired-like homeodomain transcription
factor that functions primarily as a transcriptional repressor and has been implicated in …
factor that functions primarily as a transcriptional repressor and has been implicated in …
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
K Poirier, H Van Esch, G Friocourt, Y Saillour… - Molecular brain …, 2004 - Elsevier
Recent human genetics approaches identified the Aristaless-related homeobox (ARX) gene
as the causative gene in X-linked infantile spasms, Partington syndrome, and non …
as the causative gene in X-linked infantile spasms, Partington syndrome, and non …