Cargando…

Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy

The most frequent genetic cause of focal epilepsies is variations in the GAP activity toward RAGs 1 complex genes DEP domain containing 5 (DEPDC5), nitrogen permease regulator 2-like protein (NPRL2) and nitrogen permease regulator 3-like protein (NPRL3). Because these variations are frequent and ass...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ishida, Saeko, Zhao, Di, Sawada, Yuta, Hiraoka, Yuichi, Mashimo, Tomoji, Tanaka, Kohichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	General Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9071434/ https://www.ncbi.nlm.nih.gov/pubmed/34965576 http://dx.doi.org/10.1093/hmg/ddab337

Ejemplares similares

Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy
por: Zhang, Hongwei, et al.
Publicado: (2023)

Bioinformatics analysis of the prognostic and immunotherapeutic significance of NPRL2 in stomach adenocarcinoma
por: Pi, Yilin, et al.
Publicado: (2022)

Tumor suppressor NPRL2 induces ROS production and DNA damage response
por: Ma, Yinxing, et al.
Publicado: (2017)

MPG and NPRL3 Polymorphisms Are Associated with Ischemic Stroke Susceptibility and Post-Stroke Mortality
por: Ryu, Chang Soo, et al.
Publicado: (2020)

The TORC1 inhibitor Nprl2 protects age-related digestive function in Drosophila
por: Xi, Junmeng, et al.
Publicado: (2019)

Increased glycine contributes to synaptic dysfunction and early mortality in Nprl2 seizure model
por: Dentel, Brianne, et al.
Publicado: (2022)

The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant
por: Wang, Yue, et al.
Publicado: (2023)

Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
por: Sun, Yulin, et al.
Publicado: (2021)

FKBP39 controls nutrient dependent Nprl3 expression and TORC1 activity in Drosophila
por: Zhou, Ying, et al.
Publicado: (2021)

Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies
por: Mabika, Madora, et al.
Publicado: (2023)

Opposing functions of β-arrestin 1 and 2 in Parkinson’s disease via microglia inflammation and Nprl3
por: Fang, Yinquan, et al.
Publicado: (2021)

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review
por: Dainelli, Alice, et al.
Publicado: (2023)

NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis
por: Hui, Jeremy B., et al.
Publicado: (2022)

Laser interstitial thermal therapy for NPRL3-related epilepsy with multiple seizure foci: A case report
por: Abumurad, Sumayyah, et al.
Publicado: (2021)

NPRL2 down‐regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression
por: Wang, Ya‐Chin, et al.
Publicado: (2022)

A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review
por: Zhang, Jia, et al.
Publicado: (2021)

A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci
por: Li, Youzhi, et al.
Publicado: (2021)

NPRL-Z-1, as a New Topoisomerase II Poison, Induces Cell Apoptosis and ROS Generation in Human Renal Carcinoma Cells
por: Wu, Szu-Ying, et al.
Publicado: (2014)

NPRL2 Sensitizes Human Non-Small Cell Lung Cancer (NSCLC) Cells to Cisplatin Treatment by Regulating Key Components in the DNA Repair Pathway
por: Jayachandran, Gitanjali, et al.
Publicado: (2010)

Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review
por: Hu, Junji, et al.
Publicado: (2023)

Overexpression of Nitrogen Permease Regulator Like-2 (NPRL2) Enhances Sensitivity to Irinotecan (CPT-11) in Colon Cancer Cells by Activating the DNA Damage Checkpoint Pathway
por: Liu, Shasha, et al.
Publicado: (2018)

Simultaneous down-regulation of tumor suppressor genes RBSP3/CTDSPL, NPRL2/G21 and RASSF1A in primary non-small cell lung cancer
por: Senchenko, Vera N, et al.
Publicado: (2010)

CLICK: one-step generation of conditional knockout mice
por: Miyasaka, Yoshiki, et al.
Publicado: (2018)

LDB1 Is Required for the Early Development of the Dorsal Telencephalon and the Thalamus
por: Kinare, Veena, et al.
Publicado: (2019)

Quantitative analysis of mRNA expression levels and DNA methylation profiles of three neighboring genes: FUS1, NPRL2/G21 and RASSF1A in non-small cell lung cancer patients
por: Pastuszak-Lewandoska, Dorota, et al.
Publicado: (2015)

Telencephalon: Neocortex
Publicado: (2008)

Isolation and culture of porcine primary fetal progenitors and neurons from the developing dorsal telencephalon
por: Aubid, Niroch Nawzad, et al.
Publicado: (2019)

Unilateral stimulation of the lateral division of the dorsal telencephalon induces synaptic plasticity in the bilateral medial division of zebrafish
por: Wu, Yao-Ju, et al.
Publicado: (2017)

Aging impairs the essential contributions of non‐glial progenitors to neurorepair in the dorsal telencephalon of the Killifish Nothobranchius furzeri
por: Van houcke, Jolien, et al.
Publicado: (2021)

Simple knockout by electroporation of engineered endonucleases into intact rat embryos
por: Kaneko, Takehito, et al.
Publicado: (2014)

Novel animal model of combined generalized and focal epilepsy
por: Ohmori, Iori, et al.
Publicado: (2022)

Characterization of the proneural gene regulatory network during mouse telencephalon development
por: Gohlke, Julia M, et al.
Publicado: (2008)

Comparative Correlative Neuroanatomy of the Vertebrate Telencephalon
por: De Lanerolle, Nihal C.
Publicado: (1982)

Perlecan controls neurogenesis in the developing telencephalon
por: Girós, Amparo, et al.
Publicado: (2007)

The Polycomb group protein Ring1 regulates dorsoventral patterning of the mouse telencephalon
por: Eto, Hikaru, et al.
Publicado: (2020)

Fgfr1 Inactivation in the Mouse Telencephalon Results in Impaired Maturation of Interneurons Expressing Parvalbumin
por: Smith, Karen Müller, et al.
Publicado: (2014)

Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon
por: Talley, Mary Jo, et al.
Publicado: (2021)

Distinct requirements for Tcf3 and Tcf12 during oligodendrocyte development in the mouse telencephalon
por: Talley, Mary Jo, et al.
Publicado: (2023)

Pathological characteristics of Ccdc85c knockout rats: a rat model of genetic hydrocephalus
por: Konishi, Shizuka, et al.
Publicado: (2019)

A Reinterpretation of the Cytoarchitectonics of the Telencephalon of the Comoran Coelacanth
por: Northcutt, R. Glenn, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_udct1sspule40vjr0b4l02e5n4