Publications by authors named "Kavita Krueger"
In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants in , encoding nitric oxide synthase 1 (NOS1) adaptor protein, cause monogenic nephrotic syndrome (NS). Here, we determined that an intergenic splice product of N / and neighboring , which precludes NOS1 binding, is the predominant isoform in mammalian kidney transcriptional and proteomic data.
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- Memory formation involves the actin cytoskeleton's modulation at synapses, with the NCK1 protein playing a key role in this process.
- Male mice without NCK1 show significant deficits in short-term memory and spatial learning, while female mice show specific challenges in reversal learning tasks.
- NCK1 is crucial for stabilizing actin dynamics and dendritic spine formation in the hippocampus, highlighting its importance in understanding cognitive disorders and potential therapeutic targets.