Review
Cell Biology
Shinichi Kinoshita, Ryuta Koyama
Summary: Microglia in the epileptic brain exhibit different activation phenotypes, but their exact roles remain unclear.
NEURAL REGENERATION RESEARCH
(2021)
Review
Physiology
Jianmin Cui
Summary: This article discusses the activation mechanisms of BK channels and their association with neurological disorders, highlighting the significance of these mechanisms in neurophysiology.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Chemistry, Analytical
Yongtao Duan, Zhenling Liu, Yi-Fan Liao, Mingzhu Wang, Yongfang Yao, Hai-Liang Zhu
Summary: This study introduces a novel fluorescent probe, the MDP probe, designed for the efficient detection of malondialdehyde (MDA), a critical biomarker associated with oxidative stress. The MDP probe offers high sensitivity, excellent selectivity, and biocompatibility, allowing for real-time monitoring of MDA levels and potential applications in disease research and diagnosis.
Review
Biology
Floriana Gernone, Annamaria Uva, Marco Silvestrino, Maria Alfonsa Cavalera, Andrea Zatelli
Summary: This review discusses the possible role of gut microbiota in the etiopathogenesis of canine idiopathic epilepsy, summarizing recent clinical and preclinical studies supporting the connection between microbiota and epilepsy via the gut-brain axis.
Article
Clinical Neurology
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L. L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H. C. Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Angels Garcia-Cazorla, Jean-Baptiste Roullet, K. Michael Gibson, Phillip L. L. Pearl
Summary: This study investigated the characteristics of epilepsy in succinic semialdehyde dehydrogenase deficiency (SSADHD) and its correlation with GABA-related metabolites and neurophysiologic markers. The findings demonstrated a high prevalence of epilepsy in SSADHD, with its onset and severity associated with age-related decline in GABA levels and cortical inhibition.
Review
Pharmacology & Pharmacy
Gleice Kelli Silva-Cardoso, Prosper N'Gouemo
Summary: Epilepsies are disorders characterized by recurrent seizures, some of which are caused by genetic mutations. Despite available medications, drug-resistant epilepsy is common. Therefore, there is a need for novel therapeutic strategies. Studies in humans and Drosophila have identified seizure-suppressor gene variants that could lead to the development of new antiseizure medications.
EXPERT OPINION ON THERAPEUTIC TARGETS
(2023)
Article
Biochemistry & Molecular Biology
Charles G. Bailey, Shailendra Gupta, Cynthia Metierre, Punkaja M. S. Amarasekera, Patrick O'Young, Wunna Kyaw, Tatyana Laletin, Habib Francis, Crystal Semaan, Mehdi Sharifi Tabar, Krishna P. Singh, Charles G. Mullighan, Olaf Wolkenhauer, Ulf Schmitz, John E. J. Rasko
Summary: The study shows that mutations in CTCF in cancer can have different impacts on its anti-proliferative effects and transcriptional regulatory activities, leading to disruption or enhancement of DNA binding. These mutations contribute to diverse cellular phenotypes by affecting cell growth regulation and gene regulatory activities.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Krzysztof Lukawski, Stanislaw J. Czuczwar
Summary: Free radicals are generated in the brain and other organs, and their production is related to brain activity. The brain is particularly vulnerable to free radical damage due to its low antioxidant capacity, which can affect lipids, nucleic acids, and proteins. Oxidative stress plays a role in neuronal death and the development of epilepsy, and this review examines free radical generation in animal models of seizures and epilepsy, as well as the consequences of oxidative stress and the potential use of antioxidant drugs in patients with epilepsy.
Article
Genetics & Heredity
Chencheng Yao, Chao Yang, Liangyu Zhao, Peng Li, Ruhui Tian, Huixing Chen, Ying Guo, Yuhua Huang, Erlei Zhi, Jing Zhai, Hongfang Sun, Jianxiong Zhang, Yan Hong, Li Zhang, Zhiyong Ji, Feng Zhang, Zhi Zhou, Zheng Li
Summary: The study identified SHOC1 as the causative gene for human NOA, and showed an autosomal recessive mode of inheritance in NOA caused by SHOC1 deficiency.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Xihan Guo, Minyan Jiang, Xueqin Dai, Jie Shen, Xu Wang
Summary: Mutations in Presenilin-1 (PS1) are responsible for the majority of familial Alzheimer's disease (AD) cases. This study demonstrates that knocking down PS1 or inhibiting its gamma-secretase activity induces genome instability, which may contribute to the development of AD. The findings suggest a potential link between PS1 loss-of-function or gain-of-function mutations and familial AD through the impairment of genome stability.
Article
Genetics & Heredity
Siren Berland, Bjorn Ivar Haukanes, Petur Benedikt Juliusson, Gunnar Houge
Summary: This study reports on a boy with a mixture of Beckwith-Wiedemann syndrome (BWS) and IMAGe syndrome, along with additional features of developmental delay and microcephaly. The researchers identified a variant in the CDKN1C gene that resulted in the production of three different RNA products, explaining the co-occurring features of both syndromes.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Olga E. Zubareva, Denis S. Sinyak, Alisa D. Kalita, Alexandra V. Griflyuk, Georgy P. Diespirov, Tatiana Y. Postnikova, Aleksey V. Zaitsev
Summary: This study evaluated the effects of anakinra, lamotrigine, and their combination on epileptogenesis using a rat model. The treatment showed significant reductions in the severity of seizures and neuronal loss in the CA1 hippocampus. However, the combination treatment was less effective in preventing neuron loss in the hippocampal CA3 field compared to monotherapy. The findings suggest that anakinra and lamotrigine, either alone or in combination, may be clinically useful in preventing histopathological and behavioral abnormalities associated with epilepsy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Xuye Yuan, Yu Zhu, David Ruiz-Carrillo, Tatsuhiko Kadowaki
Summary: Most members of the TMEM16 family act as Ca2+-activated chloride channels or phospholipid scramblases, playing different physiological roles. The family is highly conserved in eukaryotes, but the origin and evolution of its subfamilies in Metazoa are still unclear. Through evolutionary genomics analysis, this study reveals the evolutionary history of the TMEM16 family, identifying vertebrate-specific subfamilies and ancient subfamilies present in many metazoan species. The findings suggest that the TMEM16 family has evolved through gene gain and loss, with purifying selection maintaining protein structures and functions.
MOLECULAR PHYLOGENETICS AND EVOLUTION
(2022)
Article
Genetics & Heredity
Amanda T. S. Albanaz, Evgeny S. Gerasimov, Jeffrey J. Shaw, Jovana Sadlova, Julius Lukes, Petr Volf, Fred R. Opperdoes, Alexei Y. Kostygov, Anzhelika Butenko, Vyacheslav Yurchenko
Summary: The sequencing and analysis of genomes from Endotrypanum and Porcisia species sheds light on the evolutionary history of Leishmania, revealing small differences in metabolic capacities but a reduced repertoire of surface proteins compared to amastigote-dwelling Leishmania. The number of genes under positive selection in the Endotrypanum/Porcisia branch is small, with an over-representation of flagellum-related genes.
Review
Chemistry, Medicinal
Amol Kale, Rajendra Kakde, Smita Pawar, Rutuja Thombare
Summary: Heterocyclic compounds and their derivatives, particularly benzothiazole, have gained attention for their valuable biological and pharmacological properties. Despite the availability of several effective antiepileptic drugs, there are still ongoing efforts to develop safer options due to the undesirable side effects associated with current medications. This review focuses on compiling recent scientific literature data on the anticonvulsant activity of benzothiazole compounds.
MINI-REVIEWS IN MEDICINAL CHEMISTRY
(2021)