Article
Neurosciences
Nicole K. Morrill, Aurelie Joly-Amado, Qingyou Li, Sahana Prabhudeva, Edwin J. Weeber, Kevin R. Nash
Summary: This study found that the reduction in Reelin may be related to FXS, and enhancing the Reelin signaling successfully rescued cognitive deficits in FXS mice, providing a feasible therapeutic approach.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Multidisciplinary Sciences
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Summary: This study identified Prosbeta5 (PSMB5) as a candidate genetic modifier for FXTAS using a Drosophila model. Knockdown of PSMB5 suppressed CGG-associated neurodegeneration in flies and cells. Additionally, an expression quantitative trait locus variant in PSMB5 was associated with delayed onset of FXTAS in human carriers. These findings suggest a therapeutic strategy for FXTAS by targeting PSMB5.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemistry & Molecular Biology
David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor
Summary: This study characterizes the specific DNA methylation patterns of fragile X syndrome in blood and brain tissues, providing a novel avenue for the detection of the syndrome through DNA methylation analysis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Se Jin Jeon, Huiyoung Kwon, Ho Jung Bae, Edson Luck Gonzales, Junhyeong Kim, Hye Jin Chung, Dong Hyun Kim, Jong Hoon Ryu, Chan Young Shin
Summary: This study found that agmatine can reverse FXS symptoms in Fmr1 KO mouse model, including compulsions, learning and memory deficits, hyperactivity, aberrant social interaction, and communication deficit, while normalizing abnormal long-term potentiation and depression in the hippocampus.
Article
Medicine, General & Internal
Sahar Javadi, Yue Li, Jie Sheng, Lucy Zhao, Yao Fu, Daifeng Wang, Xinyu Zhao
Summary: Transient Nutlin-3 treatment can prevent neurogenesis and cognitive deficits in mature adult FXS mice, potentially through modulating the adult neurogenic niche.
Review
Genetics & Heredity
Aadil Yousuf, Nadeem Ahmed, Abrar Qurashi
Summary: Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are distinct disorders caused by abnormal expansion of CGG repeats. FXTAS is a neurodegenerative disorder characterized by gene hyperexpression, while FXS is a neurodevelopmental disorder characterized by gene silencing. Non-canonical DNA and RNA structures formed from CGG repeat expansions can disrupt cellular processes and have different effects in these two disorders.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Dragana D. Protic, Ramkumar Aishworiya, Maria Jimena Salcedo-Arellano, Si Jie Tang, Jelena Milisavljevic, Filip Mitrovic, Randi J. Hagerman, Dejan B. Budimirovic
Summary: FXS is a neurodevelopmental disorder that can be improved through early diagnosis and interventions targeting behavior symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Research & Experimental
Karima Habbas, Oktay Cakil, Boglarka Zambo, Ricardos Tabet, Fabrice Riet, Doulaye Dembele, Jean-Louis Mandel, Michael Hocquemiller, Ralph Laufer, Francoise Piguet, Herve Moine
Summary: Fragile X syndrome (FXS) is a common form of familial intellectual disability caused by the lack of RNA-binding protein FMRP. This study demonstrates that DGKk, an mRNA target of FMRP and a regulator of lipid signaling, plays an important role in FXS pathogenesis, and the delivery of modified and FMRP-independent DGKk can correct abnormal lipid signaling and behavioral phenotypes in FXS mice.
EMBO MOLECULAR MEDICINE
(2022)
Review
Genetics & Heredity
Maria Jose Gomez-Rodriguez, Montserrat Morales-Conejo, Ana Arteche-Lopez, Maria Teresa Sanchez-Calvin, Juan Francisco Quesada-Espinosa, Irene Gomez-Manjon, Carmen Palma-Milla, Jose Miguel Lezana-Rosales, Ruben Perez de la Fuente, Maria-Luisa Martin-Ramos, Manuela Fernandez-Guijarro, Marta Moreno-Garcia, Maria Isabel Alvarez-Mora
Summary: This manuscript reports a case of FXS caused by an entire hemizygous deletion of the FMR1 gene caused by maternal mosaicism, and reviews the clinical manifestations presented by carriers of FMR1 gene deletions in mosaicism.
Review
Biochemistry & Molecular Biology
Merlin G. Butler, Waheeda A. Hossain, Jacob Steinle, Harry Gao, Eleina Cox, Yuxin Niu, May Quach, Olivia J. Veatch
Summary: Fragile X syndrome is a common inherited cause of intellectual disabilities, and recent studies have found an association between intermediate or gray zone alleles and connective tissue involvement in females.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Rob Willemsen, R. Frank Kooy
Summary: Fragile X-related disorders are caused by expanded CGG repeats in the FMR1 gene and can manifest as either neurodegenerative or neurodevelopmental disorders. Mouse models have provided valuable insights into these disorders and their translational value for developing targeted therapies for intellectual disability and autism disorders.
DISEASE MODELS & MECHANISMS
(2023)
Article
Biochemistry & Molecular Biology
Pamela R. Westmark, Aaron K. Gholston, Timothy J. Swietlik, Rama K. Maganti, Cara J. Westmark
Summary: This study assessed sleep-wake cycles in mice with different genotypes and dietary interventions. The results showed that a high-fat, low-carbohydrate ketogenic diet increased non-rapid eye movement (NREM) sleep and decreased activity levels in both wild type and Fmr1(KO) mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Pedro A. A. Villa, Nancy M. M. Lainez, Carrie R. R. Jonak, Sarah C. C. Berlin, Iryna M. M. Ethell, Djurdjica Coss
Summary: Mutations in the FMR1 gene are associated with Fragile X Syndrome and reproductive disorders. This study demonstrates that female mice with Fmr1 null mutations stop reproducing early but have larger litters and increased hormone levels. The dysregulation of synaptic molecules in the hypothalamus and alterations in ovarian function contribute to these reproductive disorders. The results suggest that Fmr1 plays a role in the regulation of GnRH neuron secretion and highlights the importance of GnRH neurons in the etiology of Fmr1-mediated reproductive disorders.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Poonnada Jiraanont, Esther Manor, Nazi Tabatadze, Marwa Zafarullah, Guadalupe Mendoza, Gia Melikishvili, Flora Tassone
Summary: Fragile X syndrome is the most common cause of X-linked inherited intellectual disabilities and the most frequent monogenic form of autism spectrum disorders. It is caused by CGG trinucleotide repeat expansion in the FMR1 gene, leading to the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene can also cause fragile X syndrome.
FRONTIERS IN GENETICS
(2022)
Article
Psychiatry
Heather Fielding-Gebhardt, Rebecca Swinburne Romine, Shelley Bredin-Oja, Nancy Brady, Steven F. Warren
Summary: Mothers of children with fragile X syndrome are more likely to experience anxiety and depression due to genetic risk and parenting stress. During the COVID-19 pandemic, their levels of anxiety and depression were elevated. The impacts of the pandemic and related stressors on their families directly affected their mental well-being.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Cell Biology
Hui-Ling Tang, Si-Yu Chen, Huan Zhang, Ping Lu, Wei-Wen Sun, Mei-Mei Gao, Xiang-Da Zeng, Tao Su, Yue-Sheng Long
Summary: Arachidonic acid (AA) metabolic pathway plays a crucial role in modulating neuronal excitability in the brain. Arachidonate lipoxygenase 3 (ALOXE3), a critical enzyme in this pathway, has been found to have increasing expression levels in the mouse hippocampus and temporal cortex. It has shown to be enriched in specific subregions of the brain, such as the mossy fibre connecting hilus and CA3 neurons, the termini of Schaffer collateral projections, and the layers III and IV of the somatosensory cortex. The spatiotemporal expression pattern of ALOXE3 suggests its potential in regulating neural excitability and seizure susceptibility.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2022)
Article
Neurosciences
Jia Li, Si-Mei Lin, Jing-Da Qiao, Xiao-Rong Liu, Jie Wang, Mi Jiang, Jing Zhang, Min Zhong, Xu-Qin Chen, Jing Zhu, Na He, Tao Su, Yi-Wu Shi, Yong-Hong Yi, Wei-Ping Liao
Summary: This study identified CELSR3 gene variants potentially associated with FS/EFS+, leading to impaired protein function, but patients had favorable outcomes without neurodevelopmental disorders.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Clinical Neurology
Kerry A. Mullan, Alison Anderson, Yi-Wu Shi, Jia-Hong Ding, Ching-Ching Ng, Zhibin Chen, Larry Baum, Stacey Cherny, Slave Petrovski, Pak C. Sham, Kheng-Seang Lim, Wei-Ping Liao, Patrick Kwan
Summary: This study identified variants that could explain why some carriers of HLA-B*15:02 tolerate treatment, and why some noncarriers develop ASM-induced SJS/TEN. Additionally, this analysis suggests that the inheritance of risk for ASM-induced SJS/TEN is complex, likely involving multiple risk variants.
Article
Neurosciences
Tao Su, Meng-Long Chen, Li-Hong Liu, Hen Meng, Bin Tang, Xiao-Rong Liu, Wei-Ping Liao
Summary: This study investigated the relationship between substitution nature and functional alteration of a novel missense variant (E1623A) in the extracellular S3-S4 loop of Na(v)1.1, revealing low functional tolerance of residue E1623 to substitutions and suggesting the importance of hydrophilicity for voltage-dependent kinetics. Results also indicated a possible effect of local conformational loop flexibility on channel conductance and kinetics, highlighting the need for site-specific knowledge of proteins in bioinformatics.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Letter
Clinical Neurology
Jing-Da Qiao, Xin Li, Jia Li, Qing-Hui Guo, Xue-Qing Tang, Li-Zhi Chen, Tao Su, Yong-Hong Yi, Jie Wang, Wei-Ping Liao
Article
Neurosciences
Jing-Yang Wang, Jie Wang, Xin-Guo Lu, Wang Song, Sheng Luo, Dong-Fang Zou, Li-Dong Hua, Qian Peng, Yang Tian, Liang-Di Gao, Wei-Ping Liao, Na He
Summary: This study identified an association between PKD1 gene mutations and epilepsy, and found that there is a quantitative correlation between PKD1 gene mutations and the clinical manifestations of epilepsy. These findings will facilitate the genetic diagnosis and management of patients with PKD1 gene mutations.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Neurosciences
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Summary: This study identified ATP6V0C gene mutations associated with febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+). These mutations may affect the protein function and lead to afebrile seizures. Screening for ATP6V0C mutations can differentiate patients from other related diseases such as Dravet syndrome.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Biochemical Research Methods
Yue-Ying Wu, Cui Yang, Hua-Juan Yan, Ping Lu, Li Zhang, Weng-Cai Feng, Yue-Sheng Long
Summary: This study identified a global hippocampal lysine acetylome and an altered K-ac protein profile upon loss of FMRP. The altered K-ac proteins were enriched in energy metabolic processes and implicated in several neurological disorders. The deficiency of FMRP also induced changes in key enzymes, ATP levels, and lactate in the mouse hippocampus and hippocampal cells.
JOURNAL OF PROTEOMICS
(2022)
Article
Endocrinology & Metabolism
Fei Hu, Hua-Juan Yan, Cun-Xiu Gao, Wei-Wen Sun, Yue-Sheng Long
Summary: Inhibition of hypothalamic FTO activates STAT3 through ERK1/2, resulting in reductions in food intake and body weight.
NEUROENDOCRINOLOGY
(2023)
Article
Neurosciences
Mao-Qiang Tian, Xiao-Rong Liu, Si-Mei Lin, Jie Wang, Sheng Luo, Liang-Di Gao, Xiao-Bin Chen, Xiao-Yu Liang, Zhi-Gang Liu, Na He, Yong-Hong Yi, Wei-Ping Liao
Summary: Novel BRWD3 variants were identified in patients with idiopathic partial epilepsy (IPE), including two recurrent missense variants and one intronic variant close to splice site. These variants were found to be significantly associated with IPE and showed a higher frequency in patients compared to controls. Furthermore, missense variants located in specific domains of BRWD3 were associated with epilepsy, while destructive variants were associated with intellectual disability.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Genetics & Heredity
Tingting Ye, Jiwei Zhang, Jie Wang, Song Lan, Tao Zeng, Huaili Wang, Xuelian He, Bing-Mei Li, Weiwen Deng, Wei-Ping Liao, Xiao-Rong Liu
Summary: This study explores the relationship between BSN gene variants and epilepsy using whole-exome sequencing. The results suggest an association between BSN variants and epilepsy, with the severity of the phenotype being related to the genotypes and the molecular subregional effects of the variants.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemical Research Methods
Mei-Mei Gao, Hang Shi, Hua-Juan Yan, Yue-Sheng Long
Summary: FMRP deficit is a common cause of FXS, which is characterized by intellectual disability and ASD. A proteomic analysis identified 100 differentially abundant proteins in the PFC of Fmr1 knockout mice, and bioinformatical analysis showed that these proteins were mainly enriched in the immune system, extracellular part, and complement and coagulation cascades.
JOURNAL OF PROTEOMICS
(2023)
Article
Biology
Shiyue Du, Sheng Zeng, Li Song, Hongying Ma, Rui Chen, Junyu Luo, Xu Wang, Tingbin Ma, Xuan Xu, Hao Sun, Ping Yi, Jifeng Guo, Yaling Huang, Mugen Liu, Tao Wang, Wei-Ping Liao, Luoying Zhang, Jing Yu Liu, Beisha Tang
Summary: This study identified three novel mutations in the NPRL3 gene associated with focal epilepsy. These mutations led to truncation of the NPRL3 protein, impairing its binding with DEPDC5 and enhancing mTOR signaling. Knockdown of nprl3 in Drosophila resulted in epilepsy-like behavior and abnormal synaptic development. These findings expand the understanding of NPRL3-associated focal epilepsy and its mechanism.
SCIENCE CHINA-LIFE SCIENCES
(2023)
Article
Oncology
Na He, Bao-Zhu Guan, Jie Wang, Han-Kui Liu, Yong Mao, Zhi-Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei-sha Tang, Dong Zhou, Guang Huang, Qi-Lin Dai, Ying Zeng, Hong Han, Qiong-Xiang Zhai, Bin Li, Bin Tang, Wen-Bin Li, Wang Song, Liu Liu, Yi-Wu Shi, Bing-Mei Li, Tao Su, Peng Zhou, Xiao-Rong Liu, Li-Wu Guo, Yong-Hong Yi, Wei-Ping Liao
Summary: This study revealed that HCFC1 variants are associated with common partial epilepsy and affect protein maturation by disrupting cleavage process, leading to impaired cell proliferation. However, these variants do not affect the expression of the MMACHC gene related to cobalamin metabolism. The degree of functional impairment is correlated with the severity of clinical phenotypes.
CLINICAL AND TRANSLATIONAL MEDICINE
(2023)
Article
Genetics & Heredity
Allan Bayat, Zhenjiang Liu, Sheng Luo, Christina D. Fenger, Anne F. Hojte, Bertrand Isidor, Benjamin Cogne, Austin Larson, Caterina Zanus, Flavio Faletra, Boris Keren, Luciana Musante, Isabelle Gourfikel-An, Charles Perrine, Caroline Demily, Gaeton Lesca, Weiping Liao, Dejian Ren
Summary: This study identified genetic variants in the UNC79 gene that are associated with neurological pathologies, including cognitive impairment and developmental delay.
GENETICS IN MEDICINE
(2023)
Article
Biochemical Research Methods
Aline Silva da Cruz, Maria Margarida Drehmer, Wagner Baetas-da-Cruz, Joao Carlos Machado
Summary: This study quantified microcirculation cerebral blood flow in a rat model of ischemic stroke using ultrasound biomicroscopy and ultrasound contrast agents. The results showed high sensitivity and specificity of this method, making it a valuable tool for preclinical studies.
JOURNAL OF NEUROSCIENCE METHODS
(2024)
Article
Biochemical Research Methods
Christina Dalla, Ivana Jaric, Pavlina Pavlidi, Georgia E. Hodes, Nikolaos Kokras, Anton Bespalov, Martien J. Kas, Thomas Steckler, Mohamed Kabbaj, Hanno Wuerbel, Jordan Marrocco, Jessica Tollkuhn, Rebecca Shansky, Debra Bangasser, Jill B. Becker, Margaret McCarthy, Chantelle Ferland-Beckham
Summary: Many funding agencies have emphasized the importance of considering sex as a biological variable in experimental design to improve the reproducibility and translational relevance of preclinical research. Omitting the female sex from experimental designs in neuroscience and pharmacology can result in biased or limited understanding of disease mechanisms. This article provides methodological considerations for incorporating sex as a biological variable in in vitro and in vivo experiments, including the influence of age and hormone levels, and proposes strategies to enhance methodological rigor and translational relevance in preclinical research.
JOURNAL OF NEUROSCIENCE METHODS
(2024)
Article
Biochemical Research Methods
Wenyu Gu, Dongxu Li, Jia-Hong Gao
Summary: We developed a precise and rapid method for positioning and labelling triaxial OPMs on a wearable magnetoencephalography (MEG) system, improving the efficiency of OPM positioning and labelling.
JOURNAL OF NEUROSCIENCE METHODS
(2024)
Article
Biochemical Research Methods
Kai Lin, Linhang Zhang, Jing Cai, Jiaqi Sun, Wenjie Cui, Guangda Liu
Summary: The article introduces an EEG feature map processing model for emotion recognition, which achieves significantly improved accuracy by fusing EEG information at different spatial scales and introducing a channel attention mechanism.
JOURNAL OF NEUROSCIENCE METHODS
(2024)
Article
Biochemical Research Methods
John E. Parker, Asier Aristieta, Aryn H. Gittis, Jonathan E. Rubin
Summary: This work presents a toolbox that implements a methodology for automated classification of neural responses based on spike train recordings. The toolbox provides a user-friendly and efficient approach to detect various types of neuronal responses that may not be identified by traditional methods.
JOURNAL OF NEUROSCIENCE METHODS
(2024)
Article
Biochemical Research Methods
Yun Liang, Ke Bo, Sreenivasan Meyyappan, Mingzhou Ding
Summary: This study compared the performance of SVM and CNN on the same datasets and found that CNN achieved consistently higher classification accuracies. The classification accuracies of SVM and CNN were generally not correlated, and the heatmaps derived from them did not overlap significantly.
JOURNAL OF NEUROSCIENCE METHODS
(2024)
Article
Biochemical Research Methods
Antonino Visalli, Maria Montefinese, Giada Viviani, Livio Finos, Antonino Vallesi, Ettore Ambrosini
Summary: This study introduces an analytical strategy that allows the use of mixed-effects models (LMM) in mass univariate analyses of EEG data. The proposed method overcomes the computational costs and shows excellent performance properties, making it increasingly important in the field of neuroscience.
JOURNAL OF NEUROSCIENCE METHODS
(2024)
Article
Biochemical Research Methods
Xavier Cano-Ferrer, Alexandra Tran -Van -Minh, Ede Rancz
Summary: This study developed a novel rotation platform for studying neural processes and spatial navigation. The platform is modular, affordable, and easy to build, and can be driven by the experimenter or animal movement. The research demonstrated the utility of the platform, which combines the benefits of head fixation and intact vestibular activity.
JOURNAL OF NEUROSCIENCE METHODS
(2024)