Search Results - "Jing, Qiong"
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Epileptic Mechanisms Shared by Alzheimer’s Disease: Viewed via the Unique Lens of Genetic Epilepsy
Published in International journal of molecular sciences (01-07-2021)“…Our recent work on genetic epilepsy (GE) has identified common mechanisms between GE and neurodegenerative diseases including Alzheimer’s disease (AD)…”
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Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies
Published in Epilepsy research (01-11-2017)“…•Impaired GABAergic signaling is a converging pathway for epilepsies associated with mutations in several unrelated genes.•GABAergic signaling could be…”
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Ongoing Pharmacological Developments in SLC6A1 Research & Treatment
Published in Clinical pharmacology and therapeutics (01-12-2024)Get full text
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Mutations in GABAA receptor subunits associated with genetic epilepsies
Published in The Journal of physiology (01-06-2010)“…Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including…”
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Heterozygous GABAA receptor β3 subunit N110D knock‐in mice have epileptic spasms
Published in Epilepsia (Copenhagen) (01-04-2023)“…Objective Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock‐in mouse…”
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Distinct roles of GRIN2A and GRIN2B variants in neurological conditions [version 1; peer review: awaiting peer review]
Published in F1000 research (2019)“…Rapid advances in sequencing technology have led to an explosive increase in the number of genetic variants identified in patients with neurological disease…”
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Layered Birnessite Cathode with a Displacement/Intercalation Mechanism for High-Performance Aqueous Zinc-Ion Batteries
Published in Nano-micro letters (18-02-2020)“…Highlights A layered sodium-ion/crystal water co-intercalated Na 0.55 Mn 2 O 4 ·0.57H 2 O (NMOH) cathode is synthesized successfully with a selectively etching…”
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The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration
Published in Nature neuroscience (01-07-2015)“…The Q390X mutation in the GABA A receptor GABRG2 has been associated with Dravet syndrome in humans. In this study, the authors generated a new genetic…”
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Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD
Published in Experimental neurology (01-08-2021)“…Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of neurodevelopmental disorders…”
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4‐Phenylbutyrate promoted wild‐type γ‐aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome
Published in Epilepsia (Copenhagen) (01-01-2024)“…Objective γ‐Aminobutyric acid type A (GABAA) receptor subunit gene mutations are major causes of various epilepsy syndromes, including severe kinds such as…”
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Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons
Published in Brain (London, England : 1878) (04-09-2021)“…Solute carrier family 6 member 1 (SLC6A1) is abundantly expressed in the developing brain even before the CNS is formed. Its encoded GABA transporter 1 (GAT-1)…”
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MG53 ameliorates nerve injury induced neuropathic pain through the regulation of Nrf2/HO-1 signaling in rats
Published in Behavioural brain research (09-07-2023)“…Neuropathic pain is one of the most common types of chronic pain, and it arises as a direct consequence of a lesion or disease that affects the somatosensory…”
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Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans
Published in Neurobiology of disease (01-10-2022)“…Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We…”
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Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy
Published in Biomedicines (11-03-2022)“…The epilepsies are a broad group of conditions characterized by repeated seizures, and together are one of the most common neurological disorders…”
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Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome
Published in International journal of molecular sciences (01-05-2024)“…A significant number of patients with genetic epilepsy do not obtain seizure freedom, despite developments in new antiseizure drugs, suggesting a need for…”
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Molecular basis for and chemogenetic modulation of comorbidities in GABRG2‐deficient epilepsies
Published in Epilepsia (Copenhagen) (01-06-2019)“…Objective γ‐Aminobutyric acid type A (GABAA) receptor subunit gene mutations are significant causes of epilepsy, which are often accompanied by various…”
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Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype
Published in Annals of neurology (01-10-2013)“…Objective Genetic epilepsies and many other human genetic diseases display phenotypic heterogeneity, often for unknown reasons. Disease severity associated…”
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Insights into the similarities and differences of whiteleg shrimp pre-soaked with sodium tripolyphosphate and sodium trimetaphosphate during frozen storage
Published in Food chemistry (30-06-2021)“…•Similarities and differences in shrimp pre-soaked with STPP and STMP were investigated during storage.•STMP and STPP maintained the WHC, texture, and thermal…”
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Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype
Published in International journal of molecular sciences (26-08-2022)“…Mutations in GABA receptor subunit genes ( ) are a major etiology for developmental and epileptic encephalopathies (DEEs). This article reports a case of a…”
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Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2+/Q390X knockin: A link between genetic and acquired epilepsy?
Published in Epilepsia (Copenhagen) (01-10-2020)“…Objective Neuroinflammation is a major theme in epilepsy, which has been characterized in acquired epilepsy but is poorly understood in genetic epilepsy…”
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