mProX™ Human TAOK1 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Kinase Cell Lines
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Published Data
Fig.1 In vitro protein expression is differentially influenced by TAOK1 variants.
Altered expression levels of certain TAOK1 variants were observed in HEK293T cells when overexpressed, as revealed by Western blot analysis, with the number of samples denoted within brackets for each condition in the study.
Ref: van Woerden, Geeske M., et al. "TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development." Human mutation 42.4 (2021): 445-459.
Pubmed: 33565190
DOI: 10.1002/humu.24176
Research Highlights
Liu, Chuan-Yong. et al. "Fetal macrocephaly in the third trimester: Prenatal phenotype of TAOK1-associated neurodevelopmental disorder." European journal of obstetrics, gynecology, and reproductive biology, 2023.
The authors of this article describe their own experience with a similar case, where they detected fetal macrocephaly (large head size) in the third trimester using ultrasound. They suggest that fetal macrocephaly could be a prenatal phenotype (physical feature) of TAOK1-associated neurodevelopmental disorder, and recommend genetic testing for such cases.
Liu, Chuan-Yong. et al. "Fetal macrocephaly in the third trimester: Prenatal phenotype of TAOK1-associated neurodevelopmental disorder." European journal of obstetrics, gynecology, and reproductive biology, 2023.
Pubmed:
37696715
DOI:
10.1016/j.ejogrb.2023.08.389
Wang, Jincheng. et al. "Taok1 haploinsufficiency leads to autistic-like behaviors in mice via the dorsal raphe nucleus." Cell reports, 2023.
Strong evidence from human genetic studies has linked the TAOK1 gene with autism spectrum disorder (ASD). In their research, the authors uncovered a frameshifting mutation in TAOK1 among a Chinese cohort with ASD. A haploinsufficiency of Taok1 in mice was found to result in autistic-like behaviors. The authors also observed a significant enrichment of Taok1 in the dorsal raphe nucleus (DRN). They determined that the reduction of Taok1 in this region suppressed the activation of DRN neurons during social interactions, leading to abnormal phosphorylation of various proteins. Furthermore, the deletion of Taok1 specifically in VGlut3-positive DRN neurons resulted in autistic-like behaviors in mice. The authors were able to reverse these behaviors by reintroducing functional Taok1 in adult mice, highlighting the critical role of Taok1 in regulating social interactions through the DRN. This study provides important insight into the underlying mechanisms of ASD.
Wang, Jincheng. et al. "Taok1 haploinsufficiency leads to autistic-like behaviors in mice via the dorsal raphe nucleus." Cell reports, 2023.
Pubmed:
37656623
DOI:
10.1016/j.celrep.2023.113078
