Article
Chemistry, Multidisciplinary
Guang-ying Li, Qiu-zi Wu, Tian-jia Song, Xue-chu Zhen, Xiang Yu
Summary: Normal brain function relies on the complex neural network, which is formed and maintained through synaptogenesis and synaptic plasticity. Deficiency in growth hormone can lead to brain development abnormalities and impair learning and memory, while growth hormone replacement therapy has been shown to ameliorate cognitive deficits. However, the underlying mechanism is still largely unknown.
ACTA PHARMACOLOGICA SINICA
(2023)
Article
Multidisciplinary Sciences
Danny McSweeney, Rafael Gabriel, Kang Jin, Zhiping P. Pang, Bruce Aronow, ChangHui Pak
Summary: This study investigates the cell-autonomous functions of CASK in cortical excitatory induced neurons (iNs) generated from CASK knockout (KO) isogenic human embryonic stem cells (hESCs). The results show that CASK plays a crucial role in synaptic transmission and synchronized network activity in mature cortical excitatory neurons.
Article
Biology
Zhihui Liu, Man Jiang, Kif Liakath-Ali, Alessandra Sclip, Jaewon Ko, Roger Shen Zhang, Thomas C. Suedhof, Gary L. Westbrook
Summary: This study reveals that calsyntenin-3 acts as a postsynaptic adhesion molecule in the mouse cerebellum, inhibiting the formation of excitatory parallel-fiber synapses while promoting the formation of inhibitory synapses, thus regulating the excitatory/inhibitory balance in Purkinje cells.
Article
Cell & Tissue Engineering
A. Levillain, S. Ahmed, D-M Kaimaki, S. Schuler, S. Barros, D. Labonte, J. C. Iatridis, N. C. Nowlan
Summary: Embryonic muscle forces play a crucial role in vertebral and intervertebral disc development, with muscle contractions affecting notochord involution, vertebral segmentation, and the mechanical properties of the intervertebral disc. Absence of muscle contractions leads to vertebral fusion, displacement of the nucleus pulposus, structural disruption of collagen in the annulus fibrosus, and increased viscosity in the annulus fibrosus. These findings highlight the importance of mechanical forces and muscle loading in proper intervertebral disc formation and potential tissue engineering therapies for intervertebral disc degeneration.
EUROPEAN CELLS & MATERIALS
(2021)
Article
Biochemistry & Molecular Biology
Thalita Figueiredo, Ana P. D. Mendes, Danielle P. Moreira, Ernesto Goulart, Danyllo Oliveira, Gerson S. Kobayashi, Shani Stern, Fernando Kok, Maria C. Marchetto, Renata Santos, Fred H. Gage, Mayana Zatz
Summary: A homozygous mutation in the IMPA1 gene was found in individuals with severe intellectual disability and disruptive behavior in a family with numerous consanguineous marriages in Northeastern Brazil. The study demonstrated that IMPA1 deficiency specifically affects NPC survival and neuronal differentiation, leading to deficits in proliferation and neurogenic potential. Rescue experiments with myo-inositol and transcriptome analysis showed extensive gene expression deregulation affecting neurogenesis pathways and upregulation of gliogenic genes in NPCs and neurons derived from ID patients.
MOLECULAR PSYCHIATRY
(2021)
Article
Biology
Yoojeong Choo, Dora Matzke, Mark D. Bowren, Daniel Tranel, Jan R. Wessel
Summary: Inhibitory control is an important function in the human brain. Lesions in the right inferior frontal gyrus can impair inhibitory control and lead to an increase in trigger failures. However, once triggered, patients' ability to implement inhibitory control remains intact.
Article
Multidisciplinary Sciences
Rongkang Deng, Minzi Chang, Joseph P. Y. Kao, Patrick O. Kanold
Summary: This study genetically ablated NMDA receptors from a subset of excitatory neurons and found that while AMPA receptor-mediated connections remained intact, GABA receptor-mediated connections were impaired. This suggests that NMDA receptors are crucial for the development of GABAergic circuits.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Donna Cosgrove, Laura Whitton, Laura Fahey, Pilib O. Broin, Gary Donohoe, Derek W. Morris
Summary: MEF2C is a crucial transcription factor during neurodevelopment, and its mutations can lead to intellectual disability. Genes influenced by MEF2C are enriched for those associated with schizophrenia, intelligence, and educational attainment, particularly in excitatory glutamatergic neurons, affecting cognitive function and neurodevelopmental disorders.
HUMAN MOLECULAR GENETICS
(2021)
Article
Food Science & Technology
Judit Biosca-Brull, Laia Guardia-Escote, Jordi Blanco, Pia Basaure, Maria Cabre, Fernando Sanchez-Santed, Jose L. Domingo, Maria Teresa Colomina
Summary: The balance of excitatory and inhibitory neurotransmitters is crucial for brain development. This study found that pesticide exposure, particularly to chlorpyrifos (CPF), is associated with neurodevelopmental disorders. Mouse experiments showed that prenatal CPF exposure affected social behavior in male mice, while the GABA system was activated in females. These findings suggest that prenatal CPF exposure has a stronger impact on males and may contribute to sex differences observed in autism spectrum disorder (ASD).
FOOD AND CHEMICAL TOXICOLOGY
(2022)
Article
Multidisciplinary Sciences
Isabel Pijuan, Elisa Balducci, Cristina Soto-Sanchez, Eduardo Fernandez, Maria Jose Barallobre, Maria L. Arbones
Summary: Mutation in the DYRK1A gene can affect the development of glial cells and the morphological features of the brain's white matter tract, potentially leading to abnormal neuronal circuit development and impaired brain function.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Giorgia Giansante, Sara Mazzoleni, Antonio G. Zippo, Luisa Ponzoni, Anna Ghilardi, Greta Maiellano, Elly Lewerissa, Eline van Hugte, Nael Nadif Kasri, Maura Francolini, Mariaelvina Sala, Luca Murru, Silvia Bassani, Maria Passafaro
Summary: Mutations in the PCDH19 gene cause DEE9, leading to synaptic defects, hyperexcitable neurons, altered network firing rate, and increased neuronal synchronization. These findings suggest that abnormal PCDH19 expression profoundly affects circuit functioning and provides new insights into DEE9 pathogenesis.
MOLECULAR PSYCHIATRY
(2023)
Article
Pathology
Timing Liu, Furene S. Wang, Felicia S. H. Cheah, Yanghong Gu, Marie Shaw, Hai-Yang Law, Stacey K. H. Tay, Caroline G. Lee, David L. Nelson, Jozef Gecz, Samuel S. Chong
Summary: A novel PCR assay was developed for simultaneous screening of trinucleotide repeat expansions at the FRAXA and FRAXE fragile sites, demonstrating accurate identification of expansions at the FMR1 and AFF2 trinucleotide repeat loci. Sanger sequencing of the AFF2 CCG repeat revealed a single-nucleotide polymorphism variant enriched in the Malay population and present in all expanded AFF2 alleles studied. Overall, this study offers a simplified approach to screening for FRAXA and FRAXE-associated disorders.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2021)
Article
Medical Laboratory Technology
Hao-Yang Feng, Fengchang Qiao, Jianxin Tan, Xiaozuo Zhang, Ping Hu, Yun Stone Shi, Zhengfeng Xu
Summary: In this study, the researchers found that Prrt2 specifically interacts with the AMPAR subunit GluA1 but does not regulate AMPAR-mediated synaptic transmission. The authors speculate that the pathology of PRRT2 variants in humans likely originates from defects in neurotransmitter release from the presynaptic membrane as suggested by recent studies.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Medicine, General & Internal
Melanie Ritter, Signe Allerup Vangkilde, Katrine Maigaard, Anne Katrine Pagsberg, Kerstin Jessica Plessen, Julie Hagstrom
Summary: Children with Tourette Syndrome (TS) showed intact performance in laboratory-based measures of inhibitory control (IC), but difficulties in daily life IC. The severity of attention-deficit/hyperactivity disorder (ADHD) symptoms was strongly associated with IC deficits, indicating that comorbid ADHD may account for these impairments.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Neurosciences
Anouar Khayachi, Ariel Ase, Calwing Liao, Anusha Kamesh, Naila Kuhlmann, Lenka Schorova, Boris Chaumette, Patrick Dion, Martin Alda, Philippe Seguela, Guy Rouleau, Austen Milnerwood
Summary: Bipolar disorder is characterized by cyclic changes in mood, often accompanied by psychosis and suicide. While lithium is known to be the most effective treatment for manic and depressive episodes, the mechanisms of bipolar disorder and how lithium works remain unclear. This study found that chronic lithium treatment in mouse cortical neurons decreased intracellular calcium flux by activating metabotropic glutamatergic receptor 5, resulting in reduced neuronal excitability and alterations in synapse function. Ultimately, lithium treatment shifts the excitatory-inhibitory balance toward inhibition, providing insight into potential targeted strategies for restoring balance in overactive neuronal networks seen in bipolar disorder.
JOURNAL OF PSYCHIATRY & NEUROSCIENCE
(2021)
Review
Clinical Neurology
Richard J. Burman, Joseph V. Raimondo, John G. R. Jefferys, Arjune Sen, Colin J. Akerman
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2020)
Article
Behavioral Sciences
Jan Chvojka, Jan Kudlacek, Wei-Chih Chang, Ondrej Novak, Filip Tomaska, Jakub Otahal, John G. R. Jefferys, Premysl Jiruska
Summary: Interictal epileptiform discharge (IED) is a traditional hallmark of epileptic tissue, but its exact role in seizure genesis is still not well understood. Persistent dichotomy exists in studies about the impact of IEDs on seizures.
EPILEPSY & BEHAVIOR
(2021)
Article
Neurosciences
Irene Busti, Manuela Allegra, Cristina Spalletti, Chiara Panzi, Laura Restani, Pierre Billuart, Matteo Caleo
JOURNAL OF NEUROSCIENCE
(2020)
Editorial Material
Medicine, Research & Experimental
Noemie Cresto, Pierre Billuart, Nathalie Rouach
M S-MEDECINE SCIENCES
(2020)
Article
Biochemistry & Molecular Biology
Petar N. Grozdanov, Elahe Masoumzadeh, Vera M. Kalscheuer, Thierry Bienvenu, Pierre Billuart, Marie-Ange Delrue, Michael P. Latham, Clinton C. MacDonald
NUCLEIC ACIDS RESEARCH
(2020)
Article
Clinical Neurology
Ethan N. Biggs, Ryan Budde, John G. R. Jefferys, Pedro P. Irazoqui
Summary: The study aimed to test the hypothesis that death similar to sudden unexpected death in epilepsy (SUDEP) in humans can be induced in seizing rats. Results showed that sudden death can be induced in two seizure models with pathophysiology consistent with human SUDEP, providing a potential explanation for observations made in human cases.
Article
Clinical Neurology
Radek Janca, Alena Jahodova, Jaroslav Hlinka, Petr Jezdik, Lenka Svobodova, Martin Kudr, Adam Kalina, Petr Marusic, Pavel Krsek, Premysl Jiruska
Summary: This study identified critical components of the epileptic network involved in seizure genesis in patients with focal cortical dysplasia (FCD). Analysis of intracranial EEG recordings revealed a seizure-related network reconfiguration in the gamma-band, with resection of ictogenic nodes correlating with favorable outcomes. The accurate identification and distinction of ictogenic areas using gamma-band markers can improve intracranial EEG interpretation in FCD-related epilepsy.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Neurosciences
Jan Kudlacek, Jan Chvojka, Vojtech Kumpost, Barbora Hermanovska, Antonin Posusta, John G. R. Jefferys, Matias Maturana, Ondrej Novak, Mark J. Cook, Jakub Otahal, Jaroslav Hlinka, Premysl Jiruska
Summary: The study reveals long-term fluctuations in seizure probability, with seizures forming clusters followed by seizure-free periods. Repeated non-convulsive seizures lead to convulsive seizures, ultimately terminating the cluster.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Multidisciplinary Sciences
Jerome Ribot, Rachel Breton, Charles-Felix Calvo, Julien Moulard, Pascal Ezan, Jonathan Zapata, Kevin Samama, Matthieu Moreau, Alexis-Pierre Bemelmans, Valentin Sabatet, Florent Dingli, Damarys Loew, Chantal Milleret, Pierre Billuart, Glenn Dallerac, Nathalie Rouach
Summary: This study found that astrocytes control critical-period closure in the mouse visual cortex, involving regulation of the extracellular matrix to promote interneuron maturation. Unconventional astrocyte connexin signaling inhibits the expression of extracellular matrix-degrading enzyme MMP9 through a pathway involving RhoA-GTPase activation. Astrocytes are not only involved in influencing the activity of single synapses, but are also key elements in the experience-dependent wiring of brain circuits.
Article
Cell Biology
Noemie Cresto, Nicolas Lebrun, Florent Dumont, Franck Letourneur, Pierre Billuart, Nathalie Rouach
Summary: This study found that in OPHN1 knockout mice, basal synaptic transmission and long-term potentiation are impaired in the adult stage, while only long-term depression is impaired in the juvenile stage. This suggests that OPHN1 differently affects synaptic function during brain maturation, providing therapeutic opportunities for early intervention.
Correction
Chemistry, Physical
Nick Gerrits, Egidius W. F. Smeets, Stefan Vuckovic, Andrew D. Powell, Katharina Doblhoff-Dier, Geert-Jan Kroes
JOURNAL OF PHYSICAL CHEMISTRY LETTERS
(2022)
Article
Biochemistry & Molecular Biology
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M. Kalscheuer, Pierre Billuart, Frederic Laumonnier, Jamel Chelly, Hans van Bokhoven, Yann Herault
Summary: Significant progress has been made in identifying new genes related to neurodevelopmental disorders in the past decade, but research on their corresponding molecular and pathophysiological mechanisms has lagged behind. This study generated mouse models for 45 genes associated with intellectual disabilities to evaluate their relationship with behavior and cognition. The results showed heterogeneity in phenotype between mutation types, recapitulating human features and emphasizing the importance of systematic approaches in deciphering the genetic causes of neurodevelopmental disorders and developing therapeutic strategies.
Article
Biochemistry & Molecular Biology
Nasim Ramezanidoraki, Driss El Ouardi, Margaux Le, Stephanie Moriceau, Mahboubeh Ahmadi, Dossi Elena, Danae Rolland, Philippe Bun, Gwenaelle Le Pen, Guillaume Canaud, Nadia Bahi-Buisson, Nathalie Rouach, Rebecca Piskorowski, Alessandra Pierani, Pierre Billuart
Summary: Cajal-Retzius cells (CRs) are transient neurons in the mammalian cortex that play a critical role in cortical development. Their persistence in postnatal life has been detected in epilepsy-related conditions, but it is unclear if it is a cause or consequence of the diseases. The decrease in PI3K/AKT/mTOR activity in CRs primes these cells to death by possibly repressing a survival pathway, with the mTORC1 branch contributing less to the phenotype.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Chemistry, Physical
Theophile Tchakoua, Andrew D. Powell, Nick Gerrits, Mark F. Somers, Katharina Doblhoff-Dier, Heriberto F. Busnengo, Geert-Jan Kroes
Summary: We evaluate the importance of quantum effects on the sticking of H2 on Al(110) for conditions that are close to those of molecular beam experiments. The quasi-classical trajectory (QCT) method and quantum dynamics (QD) method are used for calculations, with a model that allows motion in the six molecular degrees of freedom. The results show that quantum effects have a small impact on determining the accuracy of electronic structure methods for the minimum barrier height in dissociative chemisorption.
JOURNAL OF PHYSICAL CHEMISTRY C
(2023)
Article
Clinical Neurology
Gareth Morris, Massimo Avoli, Christophe Bernard, Kate Connor, Marco de Curtis, Chris G. Dulla, John G. R. Jefferys, Caterina Psarropoulou, Kevin J. Staley, Mark O. Cunningham
Summary: In vitro preparations offer valuable tools for studying and modeling seizures and epilepsy, as well as screening anti-seizure compounds. However, these models are simplifications of reality and have limitations. Therefore, a combination of in vitro models, in vivo studies, chronic epilepsy animal models, and human cell/tissue-derived preparations is recommended to maximize their potential value.