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
- , 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 - Axon growth is an essential cellular process during neural development, and its dysregulation contributes to numerous neurodevelopmental disorders. During axon growth, extracellular signals direct neurons to extend projections that connect with their synaptic targets. Paxillin is a key member of adhesion sites that control motility by linking the intracellular actin cytoskeleton to the extracellular matrix. Paxillin also binds to the cytoskeletal protein, tubulin. However, little is known about the role of adhesion proteins in neurons. Here, we use conditional paxillin knockout mice to investigate how the loss of paxillin in pyramidal cortical neurons affects developing neuron morphology. Surprisingly, loss of paxillin in pyramidal cortical neurons caused no change in axon length or soma area between control ( ) and conditional paxillin knockout ( ) mice at basal conditions. Following brain-derived neurotrophic factor stimulation, the loss of paxillin resulted in no change in soma area or axonal β-tubulin levels, but did result in a significant increase in axon length, as compared to control. Finally, the corpus callosum size was not significantly different between and animals. In summary, these data suggest that paxillin is not required for axonal growth during neural development. - Source: PubMed
Publication date: 2026/05/21
Rygel KatelynGillespie KaseyWelshhans Kristy - Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits, restricted interests, and repetitive behaviors. Emerging evidence links several autism susceptibility genes to the nonsense-mediated decay (NMD) pathway, which maintains the homeostasis of gene transcription and protein translation in the nervous system. However, the role of Suppressor with morphogenetic effect on genitalia 7 (Smg7), an essential NMD factor, in brain function and ASD remains largely unknown. Here, we generated an Emx1-Cre-mediated conditional Smg7 knockout (Smg7cko) mouse model to investigate its neurological consequences. We found that both male and female Smg7cko mice exhibited autism-like behaviors, including impaired social interaction and communication, repetitive behaviors, anxiety-like traits, and learning and memory deficits. These phenotypes were accompanied by neuronal hyperexcitability and increased dendritic spine density in layer II/III pyramidal neurons of the hippocampus and the medial prefrontal cortex (mPFC). Notably, Smg7 deletion led to pronounced upregulation of Protein Kinase D1 (PKD1) transcripts, an NMD target, in these brain regions. Strikingly, adeno-associated virus (AAV)-mediated PKD1 knockdown (AAVsh-PKD1) in the hippocampus and mPFC significantly rescued social deficits in Smg7-deficient mice. Together, these findings identify Smg7 as a key regulator of neuronal function and behavior, and reveal PKD1 upregulation as a pathogenic mechanism underlying ASD-like phenotypes, providing new insight into NMD deficiency in ASD pathophysiology and a potential therapeutic target. - Source: PubMed
Publication date: 2026/06/06
Pang YayanHao AiweiHan HuiliYuan HaoChen ChengyanXue MengtongWang LuDai ChunfangWu BinLi TangliangTian XinDong Zhifang