Haploinsufficiency of intraflagellar transport protein 172 causes autism-like behavioral phenotypes in mice through BDNF
Year: 2024
Type: article
Abstract: INTRODUCTION: Primary cilia are hair-like solitary organelles growing on most mammalian cells that play fundamental roles in embryonic patterning and organogenesis. Defective cilia often cause a suite of inherited diseases called ciliopathies with multifaceted manifestations. Intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium, actively facilitates the formation and absorption of primary cilia. IFT172 is the largest component of the IFT-B complex, and its roles in Bardet-Biedl Syndrome (BBS) have been appreciated with unclear mechanisms. OBJECTIVES: mice. RESULTS: mice. With luciferase and chip assays, we provided further evidence that Gli3 may physically interact with BDNF promoter I and regulate BDNF expression. CONCLUSIONS: Our data suggest that Ift172 per se drives neurotrophic effects and, when defective, could cause neurodevelopmental disorders reminiscent of autism-like disorders.
Source: Journal of Advanced Research
Institutions: Fujian Medical University, Central South University, Second Xiangya Hospital of Central South University, Fuzhou Neuro Psychiatric Hospital, Xiangya Hospital Central South University, Zhejiang University of Technology, Fudan University, State Key Laboratory of Medical Neurobiology, Frontiers Center for Brain Science of the Ministry of Education, University of Aberdeen
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,000
Award: G8008428604
OpenAlex ID: W4402404033