Cargando…

Characterization of the zebrafish gabra1(sa43718/sa43718) germline loss of function allele confirms a function for Gabra1 in motility and nervous system development

Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy. GABRA1 encodes for the α1 subunit of the gamma-aminobutyric acid type A receptor (GABA(A)R), which regulates the fast inhibitory impulses of the nervous system. Multiple model systems have previously been develop...

Descripción completa

Detalles Bibliográficos
Autores principales:	Paz, David, Reyes-Nava, Nayeli G., Pinales, Briana E., Perez, Isaiah, Gil, Claudia B., Gonzales, Annalise V., Grajeda, Brian, Estevao, Igor L., Ellis, Cameron C., Castro, Victoria L., Quintana, Anita M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900897/ https://www.ncbi.nlm.nih.gov/pubmed/36747751 http://dx.doi.org/10.1101/2023.01.27.525860

Ejemplares similares

A standardized polyherbal preparation POL-6 diminishes alcohol withdrawal anxiety by regulating Gabra1, Gabra2, Gabra3, Gabra4, Gabra5 gene expression of GABA(A) receptor signaling pathway in rats
por: Sharma, Lalit, et al.
Publicado: (2021)

Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish
por: Reyes-Nava, Nayeli G., et al.
Publicado: (2020)

The mRNA-edited form of GABRA3 suppresses GABRA3-mediated Akt activation and breast cancer metastasis
por: Gumireddy, Kiranmai, et al.
Publicado: (2016)

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins
por: Krenn, Martin, et al.
Publicado: (2019)

GABRA1 and GABRB2 Polymorphisms are Associated with Propofol Susceptibility
por: Zeng, Youjie, et al.
Publicado: (2022)

Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
por: Olivotto, Sara, et al.
Publicado: (2022)

Gabra2 is a genetic modifier of Dravet syndrome in mice
por: Hawkins, Nicole A., et al.
Publicado: (2021)

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy
por: Bai, Yun-Fei, et al.
Publicado: (2019)

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
por: Gjerulfsen, Cathrine E., et al.
Publicado: (2023)

Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy
por: Bai, Yun-Fei, et al.
Publicado: (2020)

Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach
por: Arslan, Ayla
Publicado: (2023)

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
por: Vogel, Florian D., et al.
Publicado: (2022)

Genetic variation in GABRA2 moderates peer influence on externalizing behavior in adolescents
por: Villafuerte, Sandra, et al.
Publicado: (2014)

Motivational Effects of Methylphenidate are Associated with GABRA2 Variants Conferring Addiction Risk
por: Duka, Theodora, et al.
Publicado: (2015)

Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*
por: Yu, Wenxi, et al.
Publicado: (2020)

Ablation of Gabra5 Influences Corticosterone Levels and Anxiety-like Behavior in Mice
por: Syding, Linn Amanda, et al.
Publicado: (2023)

No association of GABRA1 rs2279020 and GABRA6 rs3219151 polymorphisms with risk of epilepsy and antiepileptic drug responsiveness in Asian and Arabic populations: Evidence from a meta-analysis with trial sequential analysis
por: Zhang, Tiejun, et al.
Publicado: (2022)

A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro
por: Steudle, Friederike, et al.
Publicado: (2020)

Mir-139-5p inhibits glioma cell proliferation and progression by targeting GABRA1
por: Wang, Lei, et al.
Publicado: (2021)

A new stress sensor and risk factor for suicide: the T allele of the functional genetic variant in the GABRA6 gene
por: Gonda, Xenia, et al.
Publicado: (2017)

Role of gabra2, GABA(A) receptor alpha-2 subunit, in CNS development
por: Gonzalez-Nunez, Veronica
Publicado: (2015)

A quantitative trait variant in Gabra2 underlies increased methamphetamine stimulant sensitivity
por: Goldberg, Lisa R., et al.
Publicado: (2021)

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome
por: Farnaes, Lauge, et al.
Publicado: (2017)

Quantitative trait locus analysis identifies Gabra3 as a regulator of behavioral despair in mice
por: Miller, Brooke H., et al.
Publicado: (2010)

Hyperpolarization-Activated Current (I(h)) Is Reduced in Hippocampal Neurons from Gabra5−/− Mice
por: Bonin, Robert P., et al.
Publicado: (2013)

FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome
por: Jiang, Lei, et al.
Publicado: (2020)

Gabra5 plays a sexually dimorphic role in POMC neuron activity and glucose balance
por: Pei, Zhou, et al.
Publicado: (2022)

CYP2A6 and GABRA2 Gene Polymorphisms are Associated With Dexmedetomidine Drug Response
por: Fang, Chao, et al.
Publicado: (2022)

The GABA(A) receptor α2 subunit gene (GABRA2) is associated with alcohol-related behavior
por: Švob Štrac, Dubravka, et al.
Publicado: (2012)

Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease
por: Park, Suyeon, et al.
Publicado: (2016)

Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy
por: Fan, Cuixia, et al.
Publicado: (2020)

Deletion of the gabra2 Gene Results in Hypersensitivity to the Acute Effects of Ethanol but Does Not Alter Ethanol Self Administration
por: Dixon, Claire I., et al.
Publicado: (2012)

GABRA2 rs279858-linked variants are associated with disrupted structural connectome of reward circuits in heroin abusers
por: Sun, Yan, et al.
Publicado: (2018)

Prospective DNA Methylation Analysis of the CpG GABRA2 Receptor Subunit in Alcohol Dependence during Detoxification
por: Preuss, Ulrich W., et al.
Publicado: (2022)

Inhibition of microRNA‐129–2‐3p protects against refractory temporal lobe epilepsy by regulating GABRA1
por: Wang, Guan‐Yu, et al.
Publicado: (2021)

Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders
por: Chen, Wenlin, et al.
Publicado: (2022)

Downregulation of Gabra4 expression during alcohol withdrawal is mediated by specific microRNAs in cultured mouse cortical neurons
por: Bekdash, Rola A, et al.
Publicado: (2015)

miR-92b-3p acts as a tumor suppressor by targeting Gabra3 in pancreatic cancer
por: Long, Manmei, et al.
Publicado: (2017)

Sex and β-Endorphin Influence the Effects of Ethanol on Limbic Gabra2 Expression in a Mouse Binge Drinking Model
por: Rhinehart, Erin M., et al.
Publicado: (2018)

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
por: Sanchis‐Juan, Alba, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_u0c14j2dkh61mf13cg54b593gq