Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.03.022
Abstract: We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spasticity, and ten… read more here.
Keywords: human neurons; actl6b cause; loss; allelic mutations ... See more keywords
Studying human disease using human neurons
Sign Up to like & getrecommendations! Published in 2017 at "Brain Research"
DOI: 10.1016/j.brainres.2016.03.051
Abstract: Utilizing patient derived cells has enormous promise for discovering new drugs for diseases of the nervous system, a goal that has been historically quite challenging. In this review, we will outline the potential of human… read more here.
Keywords: human neurons; using human; disease; disease using ... See more keywords
Exposure of human neurons to silver nanoparticles induces similar pattern of ABC transporters gene expression as differentiation: Study on proliferating and post-mitotic LUHMES cells
Sign Up to like & getrecommendations! Published in 2018 at "Mechanisms of Ageing and Development"
DOI: 10.1016/j.mad.2018.02.004
Abstract: The Lund human mesencephalic (LUHMES) cell line originated from mesencephalon of 8-week human foetus is a renowned in vitro model of human dopaminergic neurons. After differentiation the cells exhibit dopaminergic and neuronal characteristics of biochemically… read more here.
Keywords: human neurons; silver nanoparticles; neurons silver; exposure human ... See more keywords
Tauomics and Kinetics in Human Neurons and Biological Fluids
Sign Up to like & getrecommendations! Published in 2018 at "Neuron"
DOI: 10.1016/j.neuron.2018.02.030
Abstract: In this issue of Neuron, Sato et al. (2018) combine proteomics and a stable isotope labeling method to examine different forms of tau and their kinetics in human neurons, brain, and cerebrospinal fluid and how these… read more here.
Keywords: human neurons; kinetics human; tauomics kinetics; neurons biological ... See more keywords
A Simple Procedure for Creating Scalable Phenotypic Screening Assays in Human Neurons
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-45265-1
Abstract: Neurons created from human induced pluripotent stem cells (hiPSCs) provide the capability of identifying biological mechanisms that underlie brain disorders. IPSC-derived human neurons, or iNs, hold promise for advancing precision medicine through drug screening, though… read more here.
Keywords: human neurons; creating scalable; screening assays; procedure creating ... See more keywords
MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical science"
DOI: 10.1042/cs20180980
Abstract: Recent reports, including ours, have indicated that microRNA (miR)-33 located within the intron of sterol regulatory element binding protein (SREBP) 2 controls cholesterol homeostasis and can be a potential therapeutic target for the treatment of… read more here.
Keywords: hereditary spastic; therapeutic target; human neurons; mir 33a ... See more keywords
The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling
Sign Up to like & getrecommendations! Published in 2018 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aar4338
Abstract: Inactivation of the Fmr1 gene that is mutated in fragile X syndrome leads to loss of retinoic acid–mediated homeostatic plasticity in human neurons. A fragile neuronal network Inactivation of the fragile X mental retardation 1… read more here.
Keywords: human neurons; fmr1; homeostatic plasticity; retinoic acid ... See more keywords
High-Throughput Phenotypic Assay for Compounds That Influence Mitochondrial Health Using iPSC-Derived Human Neurons
Sign Up to like & getrecommendations! Published in 2021 at "SLAS Discovery"
DOI: 10.1177/24725552211000671
Abstract: There is a critical need to develop high-throughput assays to identify compounds that offer therapy for individuals suffering from neurodegenerative diseases. Most brain disorders, including neurodegenerative diseases, share the common neuropathology of mitochondria dysfunction, which… read more here.
Keywords: human neurons; assay compounds; throughput; mitochondrial health ... See more keywords
Human Neurons Form Axon-Mediated Functional Connections with Human Cardiomyocytes in Compartmentalized Microfluidic Chip
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23063148
Abstract: The cardiac autonomic nervous system (cANS) regulates cardiac function by innervating cardiac tissue with axons, and cardiomyocytes (CMs) and neurons undergo comaturation during the heart innervation in embryogenesis. As cANS is essential for cardiac function,… read more here.
Keywords: cell; compartmentalized microfluidic; human neurons; 3d3c chip ... See more keywords