Ask about this productRelated genes to: EMX1 antibody
- Gene:
- EMX1 NIH gene
- Name:
- empty spiracles homeobox 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 2p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1994-02-08
- Date modifiied:
- 2015-08-25
Related products to: EMX1 antibody
Related articles to: EMX1 antibody
- KCNA1 encodes the α-subunit of the voltage-gated potassium channel KV1.1. Mutations in KV1.1's pore domain result in developmental and epileptic encephalopathy (DEE), where early life seizures and a culprit lesion synergistically disrupt neurodevelopmental trajectories, resulting in intellectual disability that often presents with disturbances in sleep, sociability and sensory processing. Abnormalities in the subcellular localization of Kv1.1, via mutations in/autoantibodies against LGI1 and CNTNAP2, also give rise to syndromes of epilepsy and neuropsychiatric impairment. Mice with deletions of Kcna1("-/-") are known to display spontaneous seizures at 2-3 weeks of age and premature mortality. In this study, we applied instrumented home-cage monitoring to examine how aberrations in KCNA1 expression may result in pervasive alterations in spontaneous behavior. Compared to wildtype, Kcna1-/- mice displayed a robust multifaceted behavioral syndrome featuring marked nocturnal hyperactivity, reduced sleep and sheltering, fragmented feeding/drinking rhythms, abnormal sensory responsivity and diminished wheel-running. In similar recordings, Kcna1+/- mice only displayed increased sheltering, Lgi1+/- mice displayed mild sleep reductions and Cntnap2-/- mice showed home-cage hypoactivity. Kcna1 loss in parvalbumin-positive interneurons (PV-Cre) resulted in a subtle phenocopy, with mild reductions in sleep accompanied by reduced sheltering behavior, while Kcna1 deletions in forebrain pyramidal neurons (Emx1-Cre) or dopaminergic neurons (DAT-Cre) were asymptomatic. Adult-onset conditional deletions of Kcna1 also produced only mild sleep loss 6 weeks later. To survey the molecular landscape in Kcna1-/- mice, we conducted a mass spectrometry proteomic analysis of dissected hippocampal tissue (a predominant seizure onset zone and where astrogliosis is observed). This revealed significant upregulations in brain-derived neurotrophic factor (BDNF) and the immediate early transcription factor, early growth response-3 (EGR3), which is necessary for the induction of BDNF following electroconvulsive seizures. Heterozygous or homozygous deletions of Egr3 in Kcna1-/- mice resulted in significant survival prolongation, a partial suppression of neurobehavioral impairments, and a significant reduction in the frequency of spontaneous seizures and spreading depolarization events. These phenotypic corrections were associated with an amelioration of BDNF induction, hippocampal astrogliosis and proteomic disturbances. Together, these data demonstrate how disruptions to an ion channel that governs neuronal excitability at millisecond timescales can pleiotropically alter spontaneous behavior over much longer time scales. Our results provide a model and a set of precision endpoints to understand how ictal and interictal features of DEE may manifest through long-term transcriptional alterations imparted by early life seizures. - Source: PubMed
Publication date: 2026/09/17
Mazumder Arindam GhoshKaredia SaifinaAdhyapak NandaniSchirmer CatharinaBass John SamuelKamen Jessica LJankovic Miranda JMiao QinglongGallitano Amelia LSaltzman Alexander BJain AntrixMalovannaya AnnaGlasscock EdwardAiba IsamuNoebels Jeffrey LKrishnan Vaishnav - Type I-E CRISPR-Cas3 represents a genome-editing technology in which large deletions averaging several kilobases are introduced in target regions. However, its genome-editing efficiency varies considerably across targets and cell types, making it difficult to achieve consistent results. Here, we investigated the efficacy and stability of circularized CRISPR RNAs (ccrRNAs) to enhance CRISPR-Cas3-mediated genome editing in human cells. Using single-strand DNA cleavage assays, we demonstrated that ccrRNA induces Cascade complex formation. Significant genome-editing activity targeting the and genes was observed in cellular assays using K562 cells. Long-read sequencing identified large-scale deletion mutations at the target loci and no detectable off-target effects using ccrRNA. Furthermore, ccrRNAs exhibited extended intracellular stability compared with that for linear crRNAs, resulting in an enhanced editing efficiency. These results demonstrate that ccrRNAs enable stable, efficient, and highly specific genome editing and support the broader application of the long-range deletion system. - Source: PubMed
Publication date: 2026/09/08
Mikamo KouyaYoshimi KazutoAbe NaokoTakeshita KoheiAbe HiroshiMashimo Tomoji - , encoding the scaffolding protein ankyrin-G, is a major risk gene for bipolar disorder and schizophrenia, but its cellular and circuit-level mechanisms remain poorly defined. Here, we demonstrate that deletion of in forebrain excitatory neurons-either prenatally () or in adolescence () leads to convergent behavioral phenotypes in adulthood, including hyperactivity, reduced anxiety-like behavior, and decreased depression-like responses. Calcium imaging in cultured neurons and acute brain slices revealed that ankyrin-G loss reduces both spontaneous and evoked neuronal activity. Quantitative proteomic profiling of membrane-enriched cortical fractions uncovered widespread remodeling of the synaptic proteome, including upregulation of the kinase Taok2 and unexpected downregulation of myelin basic protein (Mbp), a structural component of oligodendrocyte-derived myelin. Importantly, chronic lithium treatment, known to reverse behavioral abnormalities in -deficient mice, also restored Mbp expression. Together, our findings identify ankyrin-G as a molecular bridge between excitatory neuronal activity, synaptic structure, and myelin-associated protein expression, revealing a pathway by which variants may contribute to neuropsychiatric disease. - Source: PubMed
Publication date: 2026/08/25
Yoon SehyounSantos Marc DosKhalatyan NataliaSavas Jeffrey NPenzes Peter - Intermediate progenitor cells (IPCs) are key amplifying neuronal precursors that generate the majority of glutamatergic projection neurons during neocortical development. Despite their central role in corticogenesis, the transcriptional mechanisms controlling IPC proliferation and lineage progression remain incompletely defined. Here we combined single-nucleus transcriptomics with bulk RNA sequencing of purified IPCs to identify the TALE homeodomain transcription factors Pbx1 and Pbx3 as prominent regulators in cortical progenitor populations. Single-nucleus RNA-seq of Tbr2 IPCs reveals broad expression of Pbx1 across IPC states, with Pbx3 selectively enriched in proliferative IPCs. Conditional dual deletion of in the dorsal telencephalon using Emx1-Cre resulted in a marked reduction of proliferating IPCs during embryogenesis, while radial glial cell numbers and survival were largely preserved. At postnatal stages, double conditional mutants displayed microcephaly with reduced cortical size, disrupted laminar organization, increased numbers of deep-layer neurons, and a selective depletion of upper-layer neurons. These defects were accompanied by severe abnormalities in forebrain connectivity, including complete loss of the anterior commissure and partial agenesis of the corpus callosum. Integrated bulk-RNA-seq and CUT&Tag profiling of IPCs identified a core set of direct Pbx1/Pbx3 transcriptional targets implicated in IPC identity and lineage progression, including , , , and . Together, our findings establish Pbx1 and Pbx3 as essential transcriptional regulators of IPC proliferation and differentiation, thereby ensuring proper cortical neuron production and forebrain morphogenesis. - Source: PubMed
Publication date: 2026/07/02
Muchamedin AsisaUlmke Pauline APham LinhNguyen Hoang DuyKümmel Marie-LuiseBurr BorisBietz DavidWahle PetraNguyen Huu PhucTuoc Tran - Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder caused by variants that inactivate one SOX5 allele and thus reveal human SOX5 haploinsufficiency in higher-order brain functions. SOX5 encodes an SRY-related transcription factor highly expressed in cortical deep-layer excitatory neurons. Sox5 mice were previously shown to die at birth with severely impaired differentiation of these cells, whereas Sox5 mice appeared normal throughout life but were not investigated for neurological defects. We here asked whether these mice and mice with Emx1-mediated inactivation of Sox5 in the progenitors of cortical and hippocampal excitatory neurons and glia exhibited LAMSHF-like behaviors. Neocortical neuron defects were equally severe in Sox5 and Sox5Emx1 mice and were marginal in Sox5 and Sox5Emx1 mice. Sox5Emx1 mice survived birth but failed to thrive around weaning, unless given a nutritious gel complement. Behavior tests revealed motor performance deficits, reduced anxiety, impaired learning and memory skills, and autistic-like behaviors in Sox5Emx1 mice and minor changes in Sox5 and Sox5Emx1 mice. Electroencephalography findings were consistent with a mild, diffuse alteration of the cortex organization in homozygous mutants. Thus, while the abnormal features of Sox5Emx1 mice evoked LAMSHF, global and conditional heterozygous mutants exhibited mild or no deficiencies. We conclude that mouse Sox5 may not be as haploinsufficient as human SOX5 in facilitating achievement of higher-order functions and that mice with homozygous loss of Sox5 in the Emx1 lineage are a suitable model to further investigate the LAMSHF-related functions of SOX5 and to preclinically test candidate therapies for LAMSHF individuals. - Source: PubMed
Publication date: 2026/06/23
Ferrari Emily KDong JosephDuncan-Field KayliaSharma VishiWhipple SamanthaMcCoy Almedia JMarsh Eric DLefebvre Véronique