Petr Kasparek
Academy of Sciences of the Czech Republic
TransgeneGenePhenotypeCas9Innate immune systemMolecular biologyAlleleProteasesChemistryImmunologyNetherton syndromeADAM10KLK5Cancer researchGeneticsComputational biologyMedicineBiologyCell biologyCRISPR
Publications 32
#1Hillary Elrick (Hospital for Sick Children)H-Index: 1
#2Kevin A. PetersonH-Index: 35
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The International Mouse Phenotyping Consortium (IMPC) is generating and phenotyping null mutations for every protein-coding gene in the mouse1,2. The IMPC now uses Cas9, a programmable RNA-guided nuclease that has revolutionized mouse genome editing3 and increased capacity and flexibility to efficiently generate null alleles in the C57BL/6N strain. In addition to being a valuable novel and accessible research resource, the production of >3,300 knockout mouse lines using comparable protocols prov...
#1Gidon Karmon (TAU: Tel Aviv University)H-Index: 3
#2Shlomo Sragovich (TAU: Tel Aviv University)H-Index: 6
Last. Olga Touloumi (A.U.Th.: Aristotle University of Thessaloniki)H-Index: 16
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Abstract null null Background null Activity-dependent neuroprotective protein (ADNP) is essential for embryonic development. As such, de novo ADNP mutations lead to an intractable autism/intellectual disability syndrome requiring investigation. null null null Methods null Mimicking humans, CRISPR-Cas9 editing produced mice carrying heterozygous Adnp p.Tyr718* (“Tyr”, paralogue of the most common ADNP syndrome mutation). Phenotypic rescue was validated by treatment with the microtubule/autophagy-...
1 CitationsSource
#1Irena JenickovaH-Index: 2
#2Petr KasparekH-Index: 8
Last. Radislav Sedlacek (CAS: Academy of Sciences of the Czech Republic)H-Index: 19
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Abstract Cre-loxP recombination system is a powerful tool for genome engineering. One of its applications is found in genetic mouse models that often require to induce Cre recombination in preimplantation embryos. Here, we describe a technically simple, affordable and highly efficient protocol for Cre protein delivery into mouse zygotes by electroporation. We show that electroporation based delivery of Cre has no negative impact on embryo survival and the method can be easily combined with in vi...
#1Olga Zbodakova (CAS: Academy of Sciences of the Czech Republic)H-Index: 6
#2Karel Chalupsky (CAS: Academy of Sciences of the Czech Republic)H-Index: 6
Last. Radislav Sedlacek (CAS: Academy of Sciences of the Czech Republic)H-Index: 19
view all 7 authors...
ADAM10 and ADAM17 are proteases that affect multiple signalling pathways by releasing molecules from the cell surface. As their substrate specificities partially overlaps, we investigated their concurrent role in liver regeneration and fibrosis, using three liver-specific deficient mouse lines: ADAM10- and ADAM17-deficient lines, and a line deficient for both proteases. In the model of partial hepatectomy, double deficient mice exhibited decreased AKT phosphorylation, decreased release of EGFR a...
Multisubunit cullin-RING ubiquitin ligase 4 (CRL4)-DCAF12 recognizes the C-terminal degron containing acidic amino acid residues. However, its physiological roles and substrates are largely unknown. Purification of CRL4-DCAF12 complexes revealed a wide range of potential substrates, including MOV10, an “ancient” RNA-induced silencing complex (RISC) complex RNA helicase. We show that DCAF12 controls the MOV10 protein level via its C-terminal motif in a proteasome- and CRL-dependent manner. Next, ...
#1Stefan Düsterhöft (RWTH Aachen University)H-Index: 11
#2Selcan Kahveci-Türköz (RWTH Aachen University)
Last. Andreas Ludwig (RWTH Aachen University)H-Index: 35
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Membrane-tethered signalling proteins such as TNFα and many EGF receptor ligands undergo shedding by the metalloproteinase ADAM17 to get released. The pseudoproteases iRhom1 and iRhom2 are important for the transport, maturation and activity of ADAM17. Yet, the structural and functional requirements to promote the transport of the iRhom-ADAM17 complex have not yet been thoroughly investigated. Utilising in silico and in vitro methods, we here map the conserved iRhom homology domain (IRHD) and pr...
#1Marie-Christine Birling (UDS: University of Strasbourg)H-Index: 15
#2Atsushi YoshikiH-Index: 37
Last. Stephen A. MurrayH-Index: 29
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The International Mouse Phenotyping Consortium reports the generation of new mouse mutant strains for more than 5,000 genes, including 2,850 novel null, 2,987 novel conditional-ready and 4,433 novel reporter alleles.
9 CitationsSource
#1Olga ZbodakovaH-Index: 6
#2Karel ChalupskyH-Index: 6
Last. Radislav SedlacekH-Index: 19
view all 7 authors...
#1Oksana Tsyklauri (Charles University in Prague)H-Index: 2
Last. Ondrej StepanekH-Index: 12
view all 13 authors...
Bardet-Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in Bbs4 or Bbs18. We find that BBS pati...
3 CitationsSource