In Vitro Generation and Characterization of The Wu Syndrome Model That Causes Mental Retardation in Neural Cell Lines
Karaman, S. S.; Sevik, T.; Akdemir, S.; Bilgin, B.; Karadeli, E.; Yalcin, D.; Baran, B.; Gelsin, B.; Budaklar, B.; Sert, B.; Gulden, G.; Tastan, C.
Show abstract
Wu Syndrome, also known as X-Linked Wu Type Intellectual Developmental Disorder, is caused by a mutation in the GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3) gene located at position 25 on the X chromosome. GRIA3 encodes iGluR3, a subunit of the AMPA (-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptor, which plays a critical role in rapid excitatory synaptic transmission in the central nervous system. This receptor is essential for learning, memory, and the processes of long-term depression (LTD) and long-term potentiation (LTP). Despite its significance, Wu Syndrome remains under-researched and lacks effective treatments. Notably, some genetic variants have been identified, but many, including the W637S variant, are still unstudied. This study pioneers the development of a Wu Syndrome model in neural cell lines using genetic modification techniques to identify and characterize new GRIA3 variants. By focusing on variants such as G833R and W637S, this research provides novel insights into their effects on GRIA3 function, paving the way for potential therapeutic strategies. This is the first study to explore the responses of neural cells to these mutations in vitro, thereby contributing valuable knowledge toward understanding and treating Wu Syndrome.
Matching journals
The top 10 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- APOBEC3B reporter myeloma cell lines identify DNA damage response pathways leading to APOBEC3B expression 95%
- Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 94%
- Polyamine biosynthesis in Xenopus laevis: the gene xlAZIN2/xlODC2 encodes a lysine decarboxylase 94%
Similar papers in this journal
- Development of Gene Editing Strategies for Human β-Globin (HBB) Gene Mutations 96%
- The baculovirus promoter OpIE2 sequence has inhibitory effect on the activity of the Cytomegalovirus (CMV) promoter in HeLa and HEK-293T cells 94%
- Protective effects of saffron and its constituent crocetin to motor symptoms, short life span and rough-eyed phenotypes in the fly models of Parkinson's disease in vivo 93%
Similar papers in this journal
- A pair of primers facing at the double-strand break site enables to detect NHEJ-mediated indel mutations at a 1-bp resolution 94%
- A versatile bulk electrotransfection protocol for mouse embryonic fibroblast and iPS cells 94%
- High-Throughput Kinase Inhibitor Screening Reveals Roles for Aurora and Nuak Kinases in Neurite Initiation and Dendritic Branching 94%
Similar papers in this journal
- Development and tissue specific expression of RAPGEF1 (C3G) transcripts having exons encoding disordered segments with predicted regulatory function. 94%
- A Rapid and Low-Cost protocol for the detection of B.1.1.7 lineage of SARS-CoV-2 by using SYBR Green-Based RT-qPCR 93%
- MAP Kinase and mammalian target of rapamycin are main pathways of gallbladder carcinogenesis: Results from bioinformatic analysis of Next Generation Sequencing data from a hospital-based cohort. 91%
Similar papers in this journal
- Protein profiling of WERI RB1 and etoposide resistant WERI ETOR reveals new insights into topoisomerase inhibitor resistance in retinoblastoma 94%
- Individual expression of hepatitis A virus 3C protease induces ferroptosis in human cells in vitro 93%
- Suitability of GRK antibodies for individual detection and quantification of GRK isoforms in western blots 93%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.