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- W4285593273 abstract "SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense and six missense variants) in SLITRK2 on the X chromosome identified by exome sequencing in individuals with neurodevelopmental disorders. Functional studies showed that some variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects. Strikingly, these variations abolished the ability of SLITRK2 wild-type to reduce the levels of the receptor tyrosine kinase TrkB in neurons. Moreover, Slitrk2 conditional knockout mice exhibited impaired long-term memory and abnormal gait, recapitulating a subset of clinical features of patients with SLITRK2 variants. Furthermore, impaired excitatory synapse maintenance induced by hippocampal CA1-specific cKO of Slitrk2 caused abnormalities in spatial reference memory. Collectively, these data suggest that SLITRK2 is involved in X-linked neurodevelopmental disorders that are caused by perturbation of diverse facets of SLITRK2 function." @default.
- W4285593273 created "2022-07-16" @default.
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- W4285593273 date "2022-07-15" @default.
- W4285593273 modified "2023-10-07" @default.
- W4285593273 title "SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice" @default.
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- W4285593273 cites W2004273706 @default.
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- W4285593273 cites W2023490488 @default.
- W4285593273 cites W2031032822 @default.
- W4285593273 cites W2042825217 @default.
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- W4285593273 cites W2344383442 @default.
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- W4285593273 cites W2537421021 @default.
- W4285593273 cites W2573690737 @default.
- W4285593273 cites W2791847870 @default.
- W4285593273 cites W2802631831 @default.
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- W4285593273 doi "https://doi.org/10.1038/s41467-022-31566-z" @default.
- W4285593273 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35840571" @default.
- W4285593273 hasPublicationYear "2022" @default.
- W4285593273 type Work @default.