Cargando…

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targeted therapies, we characterized the neurophysiolo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dugger, Sarah A., Dhindsa, Ryan S., Sampaio, Gabriela De Almeida, Ressler, Andrew K., Rafikian, Elizabeth E., Petri, Sabrina, Letts, Verity A., Teoh, JiaJie, Ye, Junqiang, Colombo, Sophie, Peng, Yueqing, Yang, Mu, Boland, Michael J., Frankel, Wayne N., Goldstein, David B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10569524/ https://www.ncbi.nlm.nih.gov/pubmed/37782669 http://dx.doi.org/10.1371/journal.pgen.1010952

Ejemplares similares

Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice
por: Ressler, Andrew K., et al.
Publicado: (2022)

Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature
por: Taylor, James, et al.
Publicado: (2022)

Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex
por: Sapir, Tamar, et al.
Publicado: (2022)

Targeting HNRNPU to overcome cisplatin resistance in bladder cancer
por: Shi, Zhen-duo, et al.
Publicado: (2022)

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
por: Depienne, Christel, et al.
Publicado: (2017)

Trio Haploinsufficiency Causes Neurodevelopmental Disease–Associated Deficits
por: Katrancha, Sara Marie, et al.
Publicado: (2019)

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
por: Lee, Sunwoo, et al.
Publicado: (2023)

Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor
por: Colombo, Sophie, et al.
Publicado: (2023)

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder
por: Schultz‐Rogers, Laura, et al.
Publicado: (2020)

NEUROBIOLOGY OF ARID1B HAPLOINSUFFICIENCY RELATED TO NEURODEVELOPMENTAL AND PSYCHIATRIC DISORDERS
por: Moffat, Jeffrey J., et al.
Publicado: (2022)

Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes
por: Birolo, Giovanni, et al.
Publicado: (2021)

Expression Profiling Identifies the Noncoding Processed Transcript of HNRNPU with Proliferative Properties in Pancreatic Ductal Adenocarcinoma
por: Sutaria, Dhruvitkumar S., et al.
Publicado: (2017)

The nuclear matrix protein HNRNPU maintains 3D genome architecture globally in mouse hepatocytes
por: Fan, Hui, et al.
Publicado: (2018)

Analysis of the nucleocytoplasmic shuttling RNA-binding protein HNRNPU using optimized HITS-CLIP method
por: Yugami, Masato, et al.
Publicado: (2020)

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
por: Lopes, Fátima, et al.
Publicado: (2017)

Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome
por: Carbonell, Abigail U., et al.
Publicado: (2019)

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
por: Serpieri, Valentina, et al.
Publicado: (2022)

CDC20-Mediated hnRNPU Ubiquitination Regulates Chromatin Condensation and Anti-Cancer Drug Response
por: Wavelet-Vermuse, Cindy, et al.
Publicado: (2022)

HNRNPU promotes the progression of triple-negative breast cancer via RNA transcription and alternative splicing mechanisms
por: Han, Bo-yue, et al.
Publicado: (2022)

PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling
por: Li, Huanzheng, et al.
Publicado: (2023)

Resistance to Diet-Induced Obesity and Associated Metabolic Perturbations in Haploinsufficient Monocarboxylate Transporter 1 Mice
por: Lengacher, Sylvain, et al.
Publicado: (2013)

DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders
por: Christian, Diana L., et al.
Publicado: (2020)

Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks
por: McSweeney, K. Melodi, et al.
Publicado: (2016)

JIP2 haploinsufficiency contributes to neurodevelopmental abnormalities in human pluripotent stem cell–derived neural progenitors and cortical neurons
por: Roessler, Reinhard, et al.
Publicado: (2018)

The RNA-binding protein hnRNPU regulates the sorting of microRNA-30c-5p into large extracellular vesicles
por: Zietzer, Andreas, et al.
Publicado: (2020)

hnRNPU in Sertoli cells cooperates with WT1 and is essential for testicular development by modulating transcriptional factors Sox8/9
por: Wen, Yujiao, et al.
Publicado: (2021)

A novel protein encoded by circHNRNPU promotes multiple myeloma progression by regulating the bone marrow microenvironment and alternative splicing
por: Tang, Xiaozhu, et al.
Publicado: (2022)

Long Noncoding RNA lncRHL Regulates Hepatic VLDL Secretion by Modulating hnRNPU/BMAL1/MTTP Axis
por: Shen, Xuan, et al.
Publicado: (2022)

circ-hnRNPU inhibits NONO-mediated c-Myc transactivation and mRNA stabilization essential for glycosylation and cancer progression
por: Li, Hongjun, et al.
Publicado: (2023)

Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency
por: Pemov, Alexander, et al.
Publicado: (2010)

Zika infection of neural progenitor cells perturbs transcription in neurodevelopmental pathways
por: Yi, Lynn, et al.
Publicado: (2017)

Unraveling Genetic Modifiers in the Gria4 Mouse Model of Absence Epilepsy
por: Frankel, Wayne N., et al.
Publicado: (2014)

RETRACTED ARTICLE: HNF4A-AS1/hnRNPU/CTCF axis as a therapeutic target for aerobic glycolysis and neuroblastoma progression
por: Song, Huajie, et al.
Publicado: (2020)

Retraction Note: HNF4A-AS1/hnRNPU/CTCF axis as a therapeutic target for aerobic glycolysis and neuroblastoma progression
por: Song, Huajie, et al.
Publicado: (2023)

PTEN haploinsufficiency and hemangiosarcoma
Publicado: (2012)

Modeling human neurodevelopmental diseases with brain organoids
por: Lu, Xiaoxiang, et al.
Publicado: (2022)

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
por: Kojic, Marija, et al.
Publicado: (2021)

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
por: Valencia, Alfredo M., et al.
Publicado: (2023)

Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy
por: Shore, Amy N., et al.
Publicado: (2020)

High expression of RUVBL1 and HNRNPU is associated with poor overall survival in stage I and II non-small cell lung cancer patients
por: Durślewicz, Justyna, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_hrgps5bcsic5lon4a676e76b77