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Elucidating ADNP Syndrome Gene Dysregulation through a Novel Approach in iPSC-Derived GABAergic Neuron Development [scRNA-seq]

ABSTRACT: Elucidating ADNP Syndrome Gene Dysregulation through a Novel Approach in iPSC-Derived GABAergic Neuron Development [scRNA-seq]

PROVIDER: PRJNA1162887 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR30726074_1.fastq.gz	Fastqsanger.gz
	SRR30726074_2.fastq.gz	Fastqsanger.gz
	SRR30726075_1.fastq.gz	Fastqsanger.gz
	SRR30726075_2.fastq.gz	Fastqsanger.gz
	SRR30726076_1.fastq.gz	Fastqsanger.gz

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Elucidating ADNP Syndrome Gene Dysregulation through a Novel Approach in iPSC-Derived GABAergic Neuron Development [ADNP_scRNA-seq]

Project description:GABAergic interneurons are essential for maintaining neural circuit function, and their dysfunction is linked to a range of neurodevelopmental and neurodegenerative disorders. Traditional approaches for differentiating human pluripotent stem cells (PSCs) into neuronal cells are often hindered by challenges such as incomplete neural differentiation, prolonged culture times, and variability across PSC lines. To overcome these limitations, we developed an innovative strategy by combining the overexpression of transcription factors Ascl1 and Dlx2 with dual-SMAD and WNT inhibition, effectively driving the differentiation of PSCs into diverse, region-specific GABAergic neuron subtypes. Through single-cell sequencing, we thoroughly characterized the heterogeneity of these induced neurons (iNs) and uncovered the regulatory mechanisms underlying their fate specification. Our findings demonstrate the successful generation of multiple disease-relevant GABAergic neuron types. Furthermore, we investigated the impact of the ADNP syndrome-associated p.Tyr719* variant on GABAergic neuron differentiation, revealing that this mutation significantly alters neuronal subtype composition and synaptic transmission. This study advances our understanding of the diversity of PSC-derived GABAergic neurons and underscores their potential as models for exploring neurological disorders.

2025-01-03 | GSE277604 | GEO

Elucidating ADNP Syndrome Gene Dysregulation through a Novel Approach in iPSC-Derived GABAergic Neuron Development [scRNA-seq]

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Elucidating ADNP Syndrome Gene Dysregulation through a Novel Approach in iPSC-Derived GABAergic Neuron Development [ADNP_scRNA-seq]

Project description:Elucidating ADNP Syndrome Gene Dysregulation through a Novel Approach in iPSC-Derived GABAergic Neuron Development [ADNP_scRNA-seq]

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Gene expression profiles of GABAergic neuron progenitors (GAD67-GFP-positive cells)

Project description:Gene expression profiles of GABAergic neuron progenitors (GAD67-GFP-positive cells)

2012-12-31 | E-MTAB-904 | biostudies-arrayexpress

Transcription profiling of mouse ADNP knockout vs wild type

Project description:The putative transcription factor, activity-dependent neuroprotective protein (ADNP) is a zinc finger and homeodomain - like profile containing protein. ADNP knockout mice die at day 9 of gestation. To reveal ADNP-associated pathways, a 22,690- Affymetrix probe array was used on ADNP knockout and control embryos. References:; Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem. 1999 Mar;72(3):1283-93. PMID: 10037502 [PubMed - indexed for MEDLINE]; Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem. 2001 Jan 5;276(1):708-14. PMID: 11013255 [PubMed - indexed for MEDLINE]; Activity-dependent neuroprotective protein: a novel gene essential for brain formation. Brain Res Dev Brain Res. 2003 Aug 12;144(1):83-90. PMID: 12888219 [PubMed - indexed for MEDLINE] Experiment Overall Design: To identify downstream target genes of ADNP, we examined global gene expression profiles of whole E9 knockout embryos (KO - ADNP -l-), their wild-type (WT - ADNP +l+ ) and their heterozygous (H - ADNP âl+ ) littermates, using the Affymetrix Murine Genome 430A oligonucleotide microarrays. Gestation day 9 was chosen as it is the period at which embryos lacking ADNP exhibit distinct morphological and developmental changes prior to degeneration and in uterus absorption. Total RNA was extracted from four ADNP knockout embryos, four normal embryos and six heterozygous embryos. A pool of two genotype identical littermates was used on seven different arrays (pooling of two embryos was necessary to obtain enough RNA on each of the gene microarrays).

2008-06-12 | E-GEOD-4068 | biostudies-arrayexpress

Gene expression profiles of intermediate progenitors of GABAergic neuron

Project description:Intermediate progenitors of GABAergic neurons obtained from the mouse embryo neocortex at E18. Additional info: http://srv02.medic.kumamoto-u.ac.jp/dept/morneuro/en_r_micro.html

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Transcriptomic insights into fate choice of pallial versus subpallial GABAergic neurons

Project description:The connectivity, activity, and plasticity of the telencephalon are shaped by pallial and subpallial GABAergic neurons, two large populations that are produced in the embryonic medial, caudal and lateral ganglionic eminences in a highly complicated manner. Dysregulated development of GABAergic neurons is associated with neuropsychiatric disorders. However, knowledge about the specification of GABAergic neuron subtypes is limited. Here, using single-cell RNA sequencing combined with loss-of-function we delineated developmental trajectories and revealed transcriptional programs that specify GABAergic neuron subtypes in each GE lineage and transcription factors that direct lineage bifurcation decisions. Our study illuminates the control of production between pallial and subpallial populations and offers transcriptomic insights into the pathogenesis of GABAergic neuron-related disorders.

2025-04-03 | GSE283968 | GEO

Expression data of Glutarmatergic neuron and GABAergic neruon induced from iPSCs

Project description:Expression data of Glutarmatergic neuron and GABAergic neruon induced from iPSCs

| PRJNA480293 | ENA

Phosphoproteomic analysis of ADNP-mutant mice

Project description:We report age-differential synaptic plasticity deficits associated with cognitive inflexibility and CaMKIIa hyperactivity in Adnp-mutant mice. These mice show impaired and inflexible contextual learning and memory along with social and anxiety-related deficits in adults, long after the juvenile-stage decrease of ADNP protein levels to ~10% of the newborn level. Adnp-mutant mice show abnormally enhanced long-term potentiation in adults but not in juveniles. This is accompanied by CaMKIIa hyperactivity involving increased baseline autophosphorylation and altered phosphorylation of CaMKIIa substrates, as revealed by unbiased proteomic analyses.

2023-07-11 | PXD037325 | Pride

Human-Induced Pluripotent Stem Cell (iPSC)-Derived GABAergic Neuron Differentiation in Bipolar Disorder

Project description:Bipolar disorder (BP) is a recurring psychiatric condition characterized by alternating episodes of low energy (depressions) followed by manias (high energy). Cortical network activity produced by GABAergic interneurons may be critical in maintaining the balance in excitatory/inhibitory activity in the brain during development. Initially, GABAergic signaling is excitatory; with maturation, these cells undergo a functional switch that converts GABAA channels from depolarizing (excitatory) to hyperpolarizing (inhibitory), which is controlled by the intracellular concentration of two chloride transporters. The earliest, NKCC1, promotes chloride entry into the cell and depolarization, while the second (KCC2) stimulates movement of chloride from the neuron, hyperpolarizing it. Perturbations in the timing or expression of NKCC1/KCC2 may affect essential morphogenetic events including cell proliferation, migration, synaptogenesis and plasticity, and thereby the structure and function of the cortex. We derived induced pluripotent stem cells (iPSC) from BP patients and undiagnosed control (C) individuals, then modified a differentiation protocol to form GABAergic interneurons, harvesting cells at sequential stages of differentiation. qRT-PCR and RNA sequencing indicated that after six weeks of differentiation, controls transiently expressed high levels of NKCC1.

2024-07-23 | GSE272060 | GEO

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