Article
Genetics & Heredity
Sathish Venkataramanappa, Dagmar Schuetz, Friederike Saaber, Praveen Ashok Kumar, Philipp Abe, Stefan Schulz, Ralf Stumm
Summary: Mutations in the DONSON gene have been linked to skeletal abnormalities and microcephaly. Deletion of Donson in cortical progenitors led to extensive cell death and abnormalities in cortical development. Targeting Donson may be a potential strategy for experimental and therapeutic purposes.
Article
Biochemistry & Molecular Biology
Kazuhiko Sawada
Summary: The present study found that neonatal exposure to valproic acid (VPA) may promote the proliferation of basal radial glia (bRG) in the premature cortex of ferrets, and these neural cells can differentiate into upper layer cortical neurons.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Varun Suresh, Bhavana Muralidharan, Saurabh J. Pradhan, Mahima Bose, Leora D'Souza, Arpan Parichha, Puli Chandramouli Reddy, Sanjeev Galande, Shubha Tole
Summary: We investigated the differences between the hippocampal primordium (Hcp) and the neocortical primordium (Ncp) in the mouse during early neurogenesis. Our results showed that the Hcp was more accessible than the Ncp at this stage. We identified LHX2 as a candidate transcription factor that regulates gene expression in the Hcp and Ncp, controlling fundamental aspects of development.
Article
Multidisciplinary Sciences
Katrin Gerstmann, Karine Kindbeiter, Ludovic Telley, Muriel Bozon, Florie Reynaud, Emy Theoulle, Camille Charoy, Denis Jabaudon, Frederic Moret, Valerie Castellani
Summary: During corticogenesis, diffusible signals from the cerebrospinal fluid may contribute to the dynamic regulation of apical adhesion, resulting in dual effects on cell positioning and cell progeny.
Article
Developmental Biology
Maria Micaela Sartoretti, Carla A. Campetella, Guillermo M. Lanuza
Summary: This study demonstrates that a restricted pool of progenitors in the mouse spinal cord produces a subset of astrocytes with extraordinary precision. The progenitor transcriptional programs highly influence glial fate and are instrumental in creating astrocyte diversity.
Article
Neurosciences
Shirui Hou, Wan-Ling Ho, Lei Wang, Bryan Kuo, Jun Young Park, Young-Goo Han
Summary: This study demonstrates that Hedgehog signaling is necessary and sufficient to expand outer radial glia (oRGs) and intermediate progenitor cells (IPCs) in ferrets, a gyrencephalic species, through conserved cellular mechanisms. Hedgehog signaling increases oRG-producing division modes of ventricular radial glia (vRGs), oRG self-renewal, and IPC proliferation in two distinct but continuous phases during cortical development.
Article
Multidisciplinary Sciences
Yohei Shinmyo, Kengo Saito, Toshihide Hamabe-Horiike, Narufumi Kameya, Akitaka Ando, Kanji Kawasaki, Tung Anh Dinh Duong, Masataka Sakashita, Jureepon Roboon, Tsuyoshi Hattori, Takayuki Kannon, Kazuyoshi Hosomichi, Michal Slezak, Matthew G. Holt, Atsushi Tajima, Osamu Hori, Hiroshi Kawasaki
Summary: This study reveals the important role of localized astrogenesis in gyrus formation in the mammalian brain. The findings suggest that the positive feedback loop of FGF signaling is a crucial mechanism underlying cortical folding.
Editorial Material
Developmental Biology
Alex Eve
Summary: Tom Nowakowski, an Assistant Professor at UCSF, utilizes single-cell sequencing technologies to investigate neurodevelopment. He is a Chan Zuckerberg Biohub Investigator and a Next Generation Leader at the Allen Institute for Brain Science. During our Zoom meeting, he discussed his career, transitioning into a group leader role, and his future plans.
Article
Multidisciplinary Sciences
Anneline Pinson, Lei Xing, Takashi Namba, Nereo Kalebic, Jula Peters, Christina Eugster Oegema, Sofia Traikov, Katrin Reppe, Stephan Riesenberg, Tomislav Maricic, RazVan derihaci, Pauline Wimberger, Svante Paabo, Wieland B. Huttner
Summary: This study found that the modern human variant hTKTL1, but not the Neanderthal variant, can increase the abundance of bRG without affecting bIPs, thereby affecting the generation of neocortical neurons. This indicates differences in neocortical neurogenesis between modern humans and Neanderthals.
Review
Biochemistry & Molecular Biology
Britt Mossink, Moritz Negwer, Dirk Schubert, Nael Nadif Kasri
Summary: This review discusses the important role of chromatin remodelers in neurodevelopment, indicating that gene mutations in NDDs are related to epigenetics, which is an important pathogenic pathway between these disorders. Over time, chromatin remodeling defects can result in impaired brain circuit establishment, especially in glutamatergic neurons, GABAergic neurons, and glia cells.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Editorial Material
Neurosciences
Victor Borrell
Summary: Researchers have found that a population of neural progenitor cells co-expressing Neurog2 and Ascl1 play a key role in the implementation of cortex folding during embryonic development.
Article
Neurosciences
Tyler J. Dause, Jiyeon K. Denninger, Bryon M. Smith, Elizabeth D. Kirby
Summary: This review focuses on investigating the autocrine and paracrine functions of the endogenous NSC secretome across life. Evidence shows that the NSC secretome is critical for how endogenous NSCs regulate themselves and their niche, but there are gaps in current literature, particularly in the clinically-relevant domain of endogenous NSC paracrine function in the injured CNS.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Cell Biology
Leah Schembs, Ariane Willems, Kerstin Hasenpusch-Theil, James D. Cooper, Katie Whiting, Karen Burr, Sunniva M. K. Bostrand, Bhuvaneish T. Selvaraj, Siddharthan Chandran, Thomas Theil
Summary: This study reveals the importance of primary cilia in dorsal and ventral patterning in human corticogenesis, identifies the tissue-specific role of the INPP5E gene as a negative regulator of SHH signaling, and suggests implications for the pathogenesis of neurodevelopmental disorders.
Article
Biochemistry & Molecular Biology
Jormay Lim, Ya-Cherng Chu, Hsiao-Hsin Tai, Andy Chien, Shao-Shiang Huang, Chih-Cheng Chen, Jaw-Lin Wang
Summary: This study quantified the optimal ultrasound dosage and long-term effects of transcranial ultrasound treatments for brain diseases. It was found that transcranial ultrasound promotes the increase of neural progenitors and this effect lasts at least a week, unaffected by auditory toxicity.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Oncology
Allison R. Pine, Stefano M. Cirigliano, Richa Singhania, James Nicholson, Barbara da Silva, Christina S. Leslie, Howard A. Fine
Summary: Using a glioblastoma cerebral organoid model, the study investigated the epigenetic regulation and cellular states of glioma stem cells. Through chromatin accessibility profiling of single cells, the dynamic chromatin changes and shared cellular compartment in glioblastoma were identified. These findings provide insights into transcriptional regulation and potential therapeutic targets for genetically heterogeneous glioblastomas.
Editorial Material
Pediatrics
Sheena Sharma, Melissa A. Lerman, Mark P. Fitzgerald, Rebecca L. Ruebner
PEDIATRIC NEPHROLOGY
(2016)
Editorial Material
Pediatrics
Sheena Sharma, Melissa A. Lerman, Mark P. Fitzgerald, Rebecca L. Ruebner
PEDIATRIC NEPHROLOGY
(2016)
Article
Cell Biology
Ying Li, Yeou-cherng Bor, Mark P. Fitzgerald, Kevin S. Lee, David Rekosh, Marie-Louise Hammarskjold
MOLECULAR BIOLOGY OF THE CELL
(2016)
Article
Clinical Neurology
Mark P. Fitzgerald, Sudha Kilaru Kessler, Nicholas S. Abend
Article
Clinical Neurology
Nicholas S. Abend, Shavonne L. Massey, Mark Fitzgerald, France Fung, Natalie J. Atkin, Rui Xiao, Alexis A. Topjian
JOURNAL OF CLINICAL NEUROPHYSIOLOGY
(2017)
Article
Clinical Neurology
Nicholas S. Abend, Douglas J. Wiebe, Rui Xiao, Shavonne L. Massey, Mark Fitzgerald, France Fung, Alexis A. Topjian
JOURNAL OF CLINICAL NEUROPHYSIOLOGY
(2018)
Article
Clinical Neurology
Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bolsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sandor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Moller
Article
Clinical Neurology
Mark P. Fitzgerald, Shavonne L. Massey, France W. Fung, Sudha Kilaru Kessler, Nicholas S. Abend
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2018)
Article
Clinical Neurology
Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffen Syrbe, Nienke Verbeek, Hannah Stamberger, Sarah Weckhuysen, Berten Ceulemans, An-Sofie Schoonjans, Massimiliano Rossi, Genevieve Demarquay, Gaetan Lesca, Kern Olofsson, D. A. Koolen, Frauke Hornemann, Stephanie Baulac, Guido Rubboli, Kelly Q. Minks, Bohoon Lee, Ingo Helbig, Dennis Dlugos, Rikke S. Moller, David Bearden
Article
Neurosciences
Denise K. Grosenbaugh, Suchitra Joshi, Mark P. Fitzgerald, Kevin S. Lee, Pravin K. Wagley, Alexander F. Koeppel, Stephen D. Turner, Michael J. McConnell, Howard P. Goodkin
NEUROBIOLOGY OF DISEASE
(2020)
Article
Clinical Neurology
Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D. Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krueger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthova, Marketa Vlckova, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P. Y. Billie Au, Jong M. Rho, Alice W. Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E. Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Gronborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Benedicte Gerard, Sara Matricardi, Claudia M. Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vollo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gelisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M. Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Muller-Schluter, Haim Bassan, Artem Borovikov, Marie-Cecile Nassogne, Anne Destree, An-Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen-Hann Tan, Heather E. Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L. Helbig, Ingo Helbig, Mark P. Fitzgerald, Ethan M. Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brunger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O. Heyne, Gaetan Lesca, Ulrike B. S. Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S. Moller
Summary: This study provides detailed functional analyses and genotype-phenotype correlations in individuals carrying disease-causing variants in SCN8A. The results reveal the clinical phenotypes related to the functional effects and the correlation between the age at seizure onset, type of epilepsy, and the gain- or loss-of-function effects of SCN8A variants.
Article
Clinical Neurology
Claudia M. Bonardi, Henrike O. Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaetan Lesca, Nienke Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria M. Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stephanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An-Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie-Christine Nougues, Massimiliano Rossi, Genevieve Demarquay, Dorothee Ville, Edouard Hirsch, Helene Maurey, Marjolaine Willems, Julitta de Bellescize, Cecilia Desmettre Altuzarra, Nathalie Villeneuve, Fabrice Bartolomei, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina D. Fenger, Wen-Hann Tan, Leanne Dibbens, David R. Bearden, Rikke S. Moller, Guido Rubboli
Summary: Variants in the KCNT1 gene are associated with a range of epilepsies and neurodevelopmental disorders. This study provides a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in a cohort of 248 individuals, identifying four main phenotypic groups and emphasizing the role of this gene in early onset developmental and epileptic encephalopathies as well as focal epilepsies.
Article
Clinical Neurology
Mark P. Fitzgerald, Michael C. Kaufman, Shavonne L. Massey, Sara Fridinger, Marisa Prelack, Colin Ellis, Xilma Ortiz-Gonzalez, Lawrence E. Fried, Marissa P. DiGiovine, Susan Melamed, Marissa Malcolm, Brenda Banwell, Donna Stephenson, Stephanie M. Witzman, Alexander Gonzalez, Dennis Dlugos, Sudha Kilaru Kessler, Ethan M. Goldberg, Nicholas S. Abend, Ingo Helbig
Summary: Standardized documentation of clinical data in childhood epilepsies through CDE enables the assessment of disease burden and reveals diverse patterns of seizure control in different epilepsy syndromes. The study results suggest that certain subpopulations have a higher prevalence of ongoing seizures in epilepsy treatment.
Article
Clinical Neurology
France W. Fung, Darshana S. Parikh, Shavonne L. Massey, Mark P. Fitzgerald, Lisa Vala, Maureen Donnelly, Marin Jacobwitz, Sudha K. Kessler, Alexis A. Topjian, Nicholas S. Abend
Summary: PRP occurred in 10% of critically ill children undergoing CEEG, with the most common patterns being GPD, LPD, GRDA, BIPD, and LRDA. These patterns were associated with ES, except for GRDA which showed no significant association.
Article
Clinical Neurology
Sara E. Molisani, Darshana Parikh, Marissa DiGiovine, Dennis Dlugos, Mark P. Fitzgerald, Lawrence Fried, Ingo Helbig, Sudha Kilaru Kessler, Pamela Pojomovsky McDonnell, Susan Melamed, Marisa S. Prelack, Uzma Sharif, Sarah Tefft, Jaclyn Tencer, Stephanie Witzman, Kathy Shaw, Nicholas S. Abend
Summary: We conducted a quality improvement project to increase rates of documented folic acid supplementation counseling for adolescent females with epilepsy. Through provider interviews and root cause analysis, we identified barriers such as limited time, lack of provider knowledge, and forgetting to counsel. We implemented interventions, including education and electronic health record features, resulting in an increase in counseling rates from 23% to 73% through several PDSA cycles.
Article
Neurosciences
Yang He, Jun Tang, Meng Zhang, Junjie Ying, Dezhi Mu
Summary: This study investigated the protective effects and mechanisms of human placenta derived mesenchymal stem cells (hPMSCs) transplantation in a rat model of hypoxic-ischemic encephalopathy (HIE). The results showed that hPMSCs transplantation reduced apoptosis and improved long-term neurological prognosis. Furthermore, the downregulation of Sema 3A/NRP-1 expression and activation of the PI3K/Akt/mTOR signaling pathway played a key role in the protective effects of hPMSCs.
Article
Neurosciences
Emily L. Isenstein, Edward G. Freedman, Jiayi Xu, Ian A. DeAndrea-Lazarus, John J. Foxe
Summary: This study evaluated electrophysiological discrimination of parametric somatosensory stimuli in healthy young adults to understand how the brain processes the duration of tactile information. The results showed that participants did not electrophysiologically discriminate between 100 and 115 ms, but they exhibited distinct electrophysiological responses when the deviant stimuli were 130, 145, and 160 ms. These findings contribute to a better understanding of tactile sensitivity in different clinical conditions.
Article
Neurosciences
Juliana R. Souza, Ludmila Lima-Silveira, Daniela Accorsi-Mendonca, Benedito H. Machado
Summary: This study demonstrates that A2A receptors play a crucial role in modulating synaptic transmission in the NTS neurons and are required for the enhancement of glutamatergic transmission observed under short-term sustained hypoxia conditions.
Article
Neurosciences
Miki Hashizume, Rina Ito, Rie Suge, Yasushi Hojo, Gen Murakami, Takayuki Murakoshi
Summary: The basolateral amygdaloid complex (BLA) is closely involved in the formation of emotional memories, including both aversive memory and contextual fear memory. Acute sleep deprivation (SD) disrupts the acquisition of tone-associated fear memory in juvenile rats, but has no significant effect on contextual fear memory. Slow network oscillation in the amygdala contributes to the formation of amygdala-dependent fear memory in relation to sleep.
Article
Neurosciences
Qunxian Wang, Shipeng Guo, Dongjie Hu, Xiangjun Dong, Zijun Meng, Yanshuang Jiang, Zijuan Feng, Weihui Zhou, Weihong Song
Summary: GSDME plays a crucial role in the pathogenesis of Alzheimer's disease by regulating the switch from apoptosis to pyroptosis and participating in neuroinflammatory response. Knockdown of GSDME has been shown to improve cognitive impairments, indicating that GSDME could be a therapeutic target for Alzheimer's disease.
