Results 31 to 40 of about 9,985 (202)

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development

Frontiers in Neuroscience, 2023
IntroductionRNA polymerase III (Pol III) is a critical enzymatic complex tasked with the transcription of ubiquitous non-coding RNAs including 5S rRNA and all tRNA genes.
Julia Macintosh, Julia Macintosh, Mackenzie Michell-Robinson, Mackenzie Michell-Robinson, Xiaoru Chen, Xiaoru Chen, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +10 more
doaj   +1 more source

Hypomyelination with atrophy of the basal ganglia and cerebellum: case report Hipomielinização com atrofia dos núcleos da base e do cerebelo: relato de caso

Arquivos de Neuro-Psiquiatria, 2007
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare disease that has been recently described. It must be remembered as a possible etiology of leukoencephalopathies in children.
André Palma da Cunha Matta, Márcia Cristina Antunes Ribas   +1 more
doaj   +1 more source

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

Frontiers in Neurology, 2023
RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III).
Julia Macintosh, Julia Macintosh, Stefanie Perrier, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Luan T. Tran, Kether Guerrero, Kether Guerrero, Chitra Prasad, Chitra Prasad, Chitra Prasad, Asuri N. Prasad, Asuri N. Prasad, Tomi Pastinen, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Benoit Coulombe, Benoit Coulombe, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +26 more
doaj   +1 more source

Minocycline-Suppression of Early Peripheral Inflammation Reduces Hypoxia-Induced Neonatal Brain Injury

Frontiers in Neuroscience, 2017
While extensive studies report that neonatal hypoxia-ischemia (HI) induces long-term cognitive impairment via inflammatory responses in the brain, little is known about the role of early peripheral inflammation response in HI injury.
Yingjun Min, Hongchun Li, Kaiyu Xu, Yilong Huang, Jie Xiao, Weizhou Wang, Longjun Li, Ting Yang, Lixuan Huang, Ling Yang, Hong Jiang, Qian Wang, Min Zhao, HaiRong Hua, Rong Mei, Fan Li   +15 more
doaj   +1 more source

TUBB4A de novo mutations cause isolated hypomyelination [PDF]

, 2014
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform Tubulin Beta Class IVA (
Funari, Tara, van der Knaap, M.S., Murphy, Jennifer Louise Patrick, Hakonarson, H., Xu, Xun, Xu, X., van der Knaap, Marjo S., Bernard, G., Bernard, Genevieve, Helman, G., Hakonarson, Hakon, Pierson, T.M., Schiffmann, R., Pierson, Tyler Mark, Fortini, Sebastian, Vanderver, A., van der Knaap, Marjo S, Fox, Michelle, Funari, T., Vanderver, Adeline, Taft, Ryan J., Guo, Y.R., Taft, R.J., Pizzino, A., Xie, Y., Fox, M., Fortini, S., Xie, Yi, Padiath, Quasar, Padiath, Q., Simons, C., Guerrero, K., Guerrero, Kether, Murphy, J.L.P., Pizzino, Amy, Helman, Guy, Simons, Cas, Guo, Yiran, Schiffmann, Raphael, Saitta, Sulagna, Taft, Ryan J, Saitta, S.   +41 more
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Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

Pediatric Neurology Briefs, 2012
Investigators from Ljubljana, Slovenia report an 8-month-old female infant with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay.
J Gordon Millichap
doaj   +1 more source

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

Frontiers in Cellular Neuroscience, 2021
Leukodystrophies are a class of rare inherited central nervous system (CNS) disorders that affect the white matter of the brain, typically leading to progressive neurodegeneration and early death. Hypomyelinating leukodystrophies are characterized by the
Stefanie Perrier, Stefanie Perrier, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +8 more
doaj   +1 more source

Analysis of the influences of social isolation on cognition and the therapeutic potential of deep brain stimulation in a mouse model

Frontiers in Psychiatry, 2023
BackgroundSocial interaction is a fundamental human need. Social isolation (SI) can have negative effects on both emotional and cognitive function. However, it is currently unclear how age and the duration of SI affect emotion and recognition function ...
Yun-Yun Hu, Yun-Yun Hu, Yun-Yun Hu, Xuan-Si Ding, Xuan-Si Ding, Gang Yang, Xue-Song Liang, Xue-Song Liang, Xue-Song Liang, Lei Feng, Yan-Yun Sun, Yan-Yun Sun, Rui Chen, Rui Chen, Quan-Hong Ma, Quan-Hong Ma   +15 more
doaj   +1 more source

Astrocyte-derived vascular endothelial growth factor stabilizes vessels in the developing retinal vasculature [PDF]

, 2010
Vascular endothelial growth factor (VEGF) plays a critical role in normal development as well as retinal vasculature disease. During retinal vascularization, VEGF is most strongly expressed by not yet vascularized retinal astrocytes, but also by retinal ...
Michael B. Powner, Powner, MB, Scott, A., Clarkin, C., Gandhi, P, Scott, Andrew, David H Gutmann, Randall S Johnson, Fruttiger, Marcus, Gutmann, DH, Johnson, RS, David H. Gutmann, Gutmann David H., Gutmann, David H., Powner Michael B., Gandhi, P., Scott Andrew, Clarkin Claire, Ferrara, N., Gandhi Pranita, Napoleone Ferrara, Johnson Randall S., Clarkin, Claire, Scott, A, Pranita Gandhi, Ferrara, Napoleone, Michael B Powner, Fruttiger Marcus, Gandhi, Pranita, Powner, Michael B., Ferrara Napoleone, Andrew Scott, Powner, M. B., Connon, Che John, Ferrara, N, Claire Clarkin, Clarkin, C, Fruttiger, M., Johnson, R.S., Gutmann, D.H., Fruttiger, M, Randall S. Johnson, Johnson, Randall S., Marcus Fruttiger   +43 more
core   +3 more sources

KI Essence extract (a spleen-tonifying formula) promotes neurite outgrowth, alleviates oxidative stress and hypomyelination, and modulates microbiome in maternal immune activation offspring

Frontiers in Pharmacology, 2022
Mushrooms and Chinese traditional herbs have bioactive nutraceuticals with multiple therapeutic functions, including antioxidant and antibacterial activities and microbiome modulation properties. Mushroom-derived bioactive compounds are used in medicines
Gilbert Aaron Lee, Gilbert Aaron Lee, Gilbert Aaron Lee, Hong-Wei Zhao, Yu-Wei Chang, Chia-Jung Lee, Chia-Jung Lee, Yu-Chen S. H. Yang, Ying-Chieh Wu, Wan-Li Lin, Yun-Ru Liu, De-Shan Ning, Sung-Hui Tseng, Sung-Hui Tseng   +13 more
doaj   +1 more source