Editorial Material
Cell Biology
Alexander Atamian, Marcella Birtele, Giorgia Quadrato
Summary: This study compares different methods for deriving human cortical organoids and finds that combining WNT and dual SMAD inhibition is more effective in inducing cortical identity in 3D human pluripotent stem-cell aggregates compared to dual SMAD inhibition alone.
NATURE CELL BIOLOGY
(2022)
Article
Nanoscience & Nanotechnology
Smriti Gupta, Vishal Singh, Subramaniam Ganesh, Nitin K. Singhal, Rajat Sandhir
Summary: Sporadic Alzheimer's disease (sAD) is a progressive neurodegenerative disorder associated with dysfunctional insulin signaling and energy metabolism. Experimental evidence suggests that siRNA targeting the gene GSK3 beta can reduce protein misfolding, improve cognitive function, and promote neuronal health.
ACS APPLIED MATERIALS & INTERFACES
(2022)
Article
Neurosciences
Kelly M. Girskis, Andrew B. Stergachis, Ellen M. DeGennaro, Ryan N. Doan, Xuyu Qian, Matthew B. Johnson, Peter P. Wang, Gabrielle M. Sejourne, M. Aurel Nagy, Elizabeth A. Pollina, Andre M. M. Sousa, Taehwan Shin, Connor J. Kenny, Julia L. Scotellaro, Brian M. Debo, Dilenny M. Gonzalez, Lariza M. Rento, Rebecca C. Yeh, Janet H. T. Song, Marc Beaudin, Jean Fan, Peter Kharchenko, Nenad Sestan, Michael E. Greenberg, Christopher A. Walsh
Summary: HARs are the fastest-evolving regions of the human genome and play a key role in rewiring human-specific neurodevelopmental gene regulatory programs, particularly in enhancing neuronal activity. PPP1R17 is identified as a putative HAR-regulated gene that affects neural progenitor cell cycle progression. These findings highlight the significance of HARs in understanding human-specific neurodevelopment and provide a valuable resource for studying enhancer activity.
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.
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)
Review
Developmental Biology
Alexandre Espinos, Eduardo Fernandez-Ortuno, Enrico Negri, Victor Borrell
Summary: The size of the cerebral cortex increases dramatically across amniotes, primarily due to changes in neural stem and progenitor cells. Recent studies have found new genes associated with cortical progenitor proliferation and increased neurogenesis. Changes in the expression levels of conserved genes are also key in the evolution of cortical neurogenesis.
DEVELOPMENTAL NEUROBIOLOGY
(2022)
Article
Cell Biology
Fenyong Yao, Shisheng Huang, Jiahui Liu, Chunhua Tan, Mengqi Xu, Dengkui Wang, Maoqing Huang, Yiyao Zhu, Xingxu Huang, Shuijin He
Summary: Haploinsufficient mutation in the Arglu1 gene is associated with neural developmental disorders, including mental retardation and epilepsy, but the specific causes are not well understood. A study in mice found that Arglu1 deficiency leads to detachment of radial glial cells from the ventricular zone, causing ectopic localization of these cells and resulting in cell apoptosis and reduced neuron production, ultimately leading to microcephaly. This study provides mechanistic insights into the cortical malformations associated with Arglu1 haploinsufficient mutation in human patients.
CELL DEATH & DISEASE
(2023)
Article
Multidisciplinary Sciences
Christina Kyrousi, Adam C. O'Neill, Agnieska Brazovskaja, Zhisong He, Pavel Kielkowski, Laure Coquand, Rossella Di Giaimo, Pierpaolo D' Andrea, Alexander Belka, Andrea Forero Echeverry, Davide Mei, Matteo Lenge, Cristiana Cruceanu, Isabel Y. Buchsbaum, Shahryar Khattak, Guimiot Fabien, Elisabeth Binder, Frances Elmslie, Renzo Guerrini, Alexandre D. Baffet, Stephan A. Sieber, Barbara Treutlein, Stephen P. Robertson, Silvia Cappello
Summary: The study demonstrates that de novo variants of LGALS3BP are associated with reduced cortical complexity and area in humans, and that LGALS3BP is involved in regulating the position of neural progenitor cells. This finding sheds light on the understanding of basal progenitor cell formation and function, as well as its impact on brain structural development.
NATURE COMMUNICATIONS
(2021)
Article
Developmental Biology
Li He, Jennifer Jones, Weiguo He, Bryan C. Bjork, Jiayu Wen, Qi Dai
Summary: PRDM16 is a crucial transcriptional regulator that promotes the transition from early to late phase of neurogenesis in the mouse neocortex. It regulates a subset of genes involved in neuronal specification, cell cycle regulation, and neuronal migration by limiting chromatin accessibility of permissive enhancers. This study provides evidence to support the temporal shift in gene expression program of neural progenitors to achieve neural cell diversity.
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
Multidisciplinary Sciences
Rongxin Fang, Chenglong Xia, Jennie L. Close, Meng Zhan, Jiang He, Zhengkai Huang, Aaron R. Halpern, Brian Long, Jeremy A. Miller, Ed S. Lein, Xiaowei Zhuang
Summary: This study used MERFISH to perform single-cell profiling of the human cerebral cortex, identifying over 100 different cell types and generating a cell atlas of the middle and superior temporal gyrus. Comparison with the mouse cortex revealed conservation in cell laminar organization and differences in cell-cell interactions across species.
Article
Multidisciplinary Sciences
Elmira Jalilian, Su Ryon Shin
Summary: Human cortical organoids (hCOs) derived from induced pluripotent stem cells (iPSCs) lack important non-neural tissues, such as the meningeal layer, which are crucial for normal corticogenesis and brain development. In this study, a 3D co-culture system was used to incorporate a thin layer of meningeal cells around the brain organoids from the early stages of cortical development. The presence of meningeal cells led to enhanced laminar organization, increased expression of specific cortical markers, and the formation of outer radial glial and astrocytes. This study provides a novel co-culture platform to better mimic the in vivo cortical brain structure and investigate neurodevelopmental disorders.
SCIENTIFIC REPORTS
(2023)
Article
Neurosciences
Sisu Han, Satoshi Okawa, Grey Atteridge Wilkinson, Hussein Ghazale, Lata Adnani, Rajiv Dixit, Ligia Tavares, Imrul Faisal, Matthew J. Brooks, Veronique Cortay, Dawn Zinyk, Adam Sivitilli, Saiqun Li, Faizan Malik, Yaroslav Ilnytskyy, Vladimir Espinosa Angarica, Jinghua Gao, Vorapin Chinchalongporn, Ana-Maria Oproescu, Lakshmy Vasan, Yacine Touahri, Luke Ajay David, Eko Raharjo, Jung-Woong Kim, Wei Wu, Waleed Rahmani, Jennifer Ai-wen Chan, Igor Kovalchuk, Liliana Attisano, Deborah Kurrasch, Colette Dehay, Anand Swaroop, Diogo S. Castro, Jeff Biernaskie, Antonio del Sol, Carol Schuurmans
Summary: The research reveals that Neurog2 and Ascl1 genes sustain neurogenic continuity and lissencephaly, while double+ NPCs show unique features of multipotency and play a key role in neurogenic symmetry and cortical folding.
Article
Multidisciplinary Sciences
Ryan N. Delgado, Denise E. Allen, Matthew G. Keefe, Walter R. Mancia Leon, Ryan S. Ziffra, Elizabeth E. Crouch, Arturo Alvarez-Buylla, Tomasz J. Nowakowski
Summary: Studies have shown that human cortical progenitors are capable of generating both excitatory neurons and cortical interneurons, expanding our understanding of the origins of neuronal diversity in the human cortex. By utilizing a new cellular barcoding tool called STICR, researchers were able to trace the clonal lineage of human cortical progenitors and identify transcriptional similarities between cortically born GABAergic neurons and cortical interneurons born from the ganglionic eminences.
Article
Biology
Mariah L. Hoye, Lorenzo Calviello, Abigail J. Poff, Nna-Emeka Ejimogu, Carly R. Newman, Maya D. Montgomery, Jianhong Ou, Stephen N. Floor, Debra L. Silver
Summary: Mutations in the DDX3X gene play a crucial role in cortical development and are associated with DDX3X syndrome. The study shows that DDX3X controls translational and cell cycle control of neural progenitors, influencing neurogenesis and cortical development.