Cargando…

Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations

Significant clinical symptoms of Cohen syndrome (CS), a rare autosomal recessive disorder, include intellectual disability, facial dysmorphism, postnatal microcephaly, retinal dystrophy, and intermittent neutropenia. CS has been associated with mutations in the VPS13B (vacuolar protein sorting 13 ho...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, You-Kyung, Lee, Soo-Kyeong, Choi, Suin, Huh, Yang Hoon, Kwak, Ji-Hye, Lee, Yong-Seok, Jang, Deok-Jin, Lee, Jae-Hyung, Lee, Kyungmin, Kaang, Bong-Kiun, Lim, Chae-Seok, Lee, Jin-A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Micro Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203861/ https://www.ncbi.nlm.nih.gov/pubmed/32375900 http://dx.doi.org/10.1186/s13041-020-00611-7

Ejemplares similares

Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes
por: Lee, You-Kyung, et al.
Publicado: (2020)

Conditional knock out of transcription factor CTCF in excitatory neurons induces cognitive deficiency
por: Choi, Dong Il, et al.
Publicado: (2021)

Elevated contextual fear memory by SIRT6 depletion in excitatory neurons of mouse forebrain
por: Kim, Hyopil, et al.
Publicado: (2018)

Loosely synchronized activation of anterior cingulate cortical neurons for scratching response during histamine-induced itch
por: Lee, Chiwoo, et al.
Publicado: (2023)

Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse
por: Kim, Min Jung, et al.
Publicado: (2019)

Increased social interaction in Shank2-deficient mice following acute social isolation
por: Choi, Ja Eun, et al.
Publicado: (2023)

Proteomic analysis of synaptic protein turnover in the anterior cingulate cortex after nerve injury
por: Ko, Hyoung-Gon, et al.
Publicado: (2020)

Overexpression of activated CaMKII in the CA1 hippocampus impairs context discrimination, but not contextual conditioning
por: Ye, Sanghyun, et al.
Publicado: (2019)

Limitations of the human iPSC-derived neuron model for early-onset Alzheimer’s disease
por: Valdes, Phoebe, et al.
Publicado: (2023)

Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation
por: Hwang, Su-Kyeong, et al.
Publicado: (2016)

Autophagy activity contributes to the impairment of social recognition in Epac2(−/−) mice
por: Kwak, Ji-Hye, et al.
Publicado: (2021)

Understanding the molecular basis of autism in a dish using hiPSCs-derived neurons from ASD patients
por: Lim, Chae-Seok, et al.
Publicado: (2015)

Differential sensitivity of three forms of hippocampal synaptic potentiation to depotentiation
por: Park, Pojeong, et al.
Publicado: (2019)

Abolished ketamine effects on the spontaneous excitatory postsynaptic current of medial prefrontal cortex neurons in GluN2D knockout mice
por: Han, Dae Hee, et al.
Publicado: (2021)

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
por: Zorn, Malte, et al.
Publicado: (2022)

Cell-specific expression of Epac2 in the subventricular and subgranular zones
por: Seo, Hyunhyo, et al.
Publicado: (2019)

Chronic skin ultraviolet irradiation induces transcriptomic changes associated with microglial dysfunction in the hippocampus
por: Yoon, Kyeong-No, et al.
Publicado: (2022)

Two major gate-keepers in the self-renewal of neural stem cells: Erk1/2 and PLCγ1 in FGFR signaling
por: Lee, Jin-A, et al.
Publicado: (2009)

Development of GABARAP family protein-sensitive LIR-based probes for neuronal autophagy
por: Jeon, Pureum, et al.
Publicado: (2019)

Effect of Intensity of Unconditional Stimulus on Reconsolidation of Contextual Fear Memory
por: Kwak, Chuljung, et al.
Publicado: (2012)

Development of a Touch-Screen-Based Paradigm for Assessing Working Memory in the Mouse
por: Kwak, Chuljung, et al.
Publicado: (2015)

Exogenous expression of an allatotropin-related peptide receptor increased the membrane excitability in Aplysia neurons
por: Zhang, Guo, et al.
Publicado: (2022)

Pain perception in acute model mice of Parkinson’s disease induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)
por: Park, Jihye, et al.
Publicado: (2015)

Identification of a novel Shank2 transcriptional variant in Shank2 knockout mouse model of autism spectrum disorder
por: Lee, Yong-Seok, et al.
Publicado: (2020)

Inhibition of anterior cingulate cortex excitatory neuronal activity induces conditioned place preference in a mouse model of chronic inflammatory pain
por: Kang, Sukjae Joshua, et al.
Publicado: (2017)

Reduced chronic restraint stress in mice overexpressing hyperactive proteasomes in the forebrain
por: Kim, Ji Hyeon, et al.
Publicado: (2020)

Transcription-independent expression of PKMζ in the anterior cingulate cortex contributes to chronically maintained neuropathic pain
por: Ko, Hyoung-Gon, et al.
Publicado: (2018)

Sequestration of PRMT1 and Nd1-L mRNA into ALS-linked FUS mutant R521C-positive aggregates contributes to neurite degeneration upon oxidative stress
por: Jun, Mi-Hee, et al.
Publicado: (2017)

Altered presynaptic function and number of mitochondria in the medial prefrontal cortex of adult Cyfip2 heterozygous mice
por: Kim, Gyu Hyun, et al.
Publicado: (2020)

Enriched expression of NF1 in inhibitory neurons in both mouse and human brain
por: Ryu, Hyun-Hee, et al.
Publicado: (2019)

Specific Expression of Aplysia Phosphodiesterase 4 in Bag Cells Revealed by in situ Hybridization Analysis
por: Jang, Deok-Jin, et al.
Publicado: (2015)

Viral nanomotors for packaging of dsDNA and dsRNA
por: Guo, Peixuan, et al.
Publicado: (2007)

Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder
por: Kim, Hyopil, et al.
Publicado: (2016)

Microtubule-associated protein 1 A and tubby act independently in regulating the localization of stereocilin to the tips of inner ear hair cell stereocilia
por: Youn, Song Yi, et al.
Publicado: (2022)

A Novel Variant in VPS13B Underlying Cohen Syndrome
por: Hussain, Abrar, et al.
Publicado: (2023)

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?
por: Huang, Miaozhen, et al.
Publicado: (2021)

Cell type-specific gene expression profiling in brain tissue: comparison between TRAP, LCM and RNA-seq
por: Kim, TaeHyun, et al.
Publicado: (2015)

Electrophysiological characterization of a Ca(v)3.2 calcium channel missense variant associated with epilepsy and hearing loss
por: Stringer, Robin N., et al.
Publicado: (2023)

TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III
por: Jun, Mi-Hee, et al.
Publicado: (2015)

A Novel Analytic Measure for the Water Maze Utilizing the Concept of Entropy
por: Lee, Hye-Ryeon, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_3n3k9iob87p75vio4hpuk8k06t