Publications by authors named "P Kasparek"
Phosphofurin acidic cluster sorting protein 2 (PACS2) plays a vital role in maintaining cellular homeostasis by regulating protein trafficking between cellular membranes. This function impacts crucial processes like apoptosis, mitochondria-endoplasmic reticulum interaction, and subsequently Ca flux, lipid biosynthesis, and autophagy. Missense mutations, particularly E209K and E211K, are linked to developmental and epileptic encephalopathy-66 (DEE66), known as PACS2 syndrome.
View Article and Find Full Text PDFIn vitro development relies primarily on treating progenitor cells with media-borne morphogens and thus lacks native-like spatial information. Here, we engineer morphogen-secreting organizer cells programmed to self-assemble, via cell adhesion, around mouse embryonic stem (ES) cells in defined architectures. By inducing the morphogen WNT3A and its antagonist DKK1 from organizer cells, we generated diverse morphogen gradients, varying in range and steepness.
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- The cytokine TNF can lead to a type of cell death influenced by RIPK1, but this can be suppressed by two proteins, TANK and AZI2, which help regulate TBK1 kinase activation.
- Mice lacking both TANK and AZI2 experience severe health issues like multi-organ inflammation and early death, which can be mitigated by disabling TNFR1 or using a modified RIPK1.
- TANK and AZI2 work together in the TNF receptor signaling process, binding to different components at distinct times to maintain TBK1 activity and protect against excessive inflammation.
Article Synopsis
- The International Mouse Phenotyping Consortium (IMPC) creates and studies mouse lines with specific gene mutations to better understand gene functions, using advanced techniques such as the Cas9 nuclease for enhanced efficiency.
- The IMPC has produced 3313 knockout mouse lines, allowing for a comprehensive analysis of factors that influence successful gene editing in living organisms.
- The research highlights that the essentiality of genes significantly affects the success rates in producing null alleles, and offers best practice guidelines for using Cas9 in gene engineering linked to human diseases.
DDI2 is an aspartic protease that cleaves polyubiquitinated substrates. Upon proteotoxic stress, DDI2 activates the transcription factor TCF11/NRF1 (NFE2L1), crucial for maintaining proteostasis in mammalian cells, enabling the expression of rescue factors, including proteasome subunits. Here, we describe the consequences of DDI2 ablation and in cells.
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