Search Results - "Kühn, Ralf"
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Increasing the efficiency of homology-directed repair for CRISPR-Cas9-induced precise gene editing in mammalian cells
Published in Nature biotechnology (01-05-2015)“…The efficiency of precise CRISPR/Cas9 genome editing is increased by inhibition of the nonhomologous end joining pathway. The insertion of precise genetic…”
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Loss of a mammalian circular RNA locus causes miRNA deregulation and affects brain function
Published in Science (American Association for the Advancement of Science) (22-09-2017)“…Hundreds of circular RNAs (circRNAs) are highly abundant in the mammalian brain, often with conserved expression. Here we show that the circRNA Cdr1as is…”
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Cell-type-specific profiling of brain mitochondria reveals functional and molecular diversity
Published in Nature neuroscience (01-10-2019)“…Mitochondria vary in morphology and function in different tissues; however, little is known about their molecular diversity among cell types. Here we…”
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Efficient generation of Rosa26 knock-in mice using CRISPR/Cas9 in C57BL/6 zygotes
Published in BMC biotechnology (16-01-2016)“…The CRISPR/Cas9 system is increasingly used for gene inactivation in mouse zygotes, but homology-directed mutagenesis and use of inbred embryos are less…”
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Gene targeting by homologous recombination in mouse zygotes mediated by zinc-finger nucleases
Published in Proceedings of the National Academy of Sciences - PNAS (24-08-2010)“…Gene targeting by homologous recombination in embryonic stem cells is extensively used to generate specific mouse mutants. However, most mammalian species lack…”
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Efficient CRISPR-mediated mutagenesis in primary immune cells using CrispRGold and a C57BL/6 Cas9 transgenic mouse line
Published in Proceedings of the National Academy of Sciences - PNAS (01-11-2016)“…Applying clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR associated protein 9 (Cas9)-mediated mutagenesis to primary mouse immune…”
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Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs
Published in Cell (20-09-2018)“…Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of proteins, but the molecular mechanism of their pathogenicity is…”
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Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
Published in Nature communications (26-03-2021)“…Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is currently incurable. The lack of effective models hampers our…”
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Mechanical forces couple bone matrix mineralization with inhibition of angiogenesis to limit adolescent bone growth
Published in Nature communications (01-06-2022)“…Bone growth requires a specialised, highly angiogenic blood vessel subtype, so-called type H vessels, which pave the way for osteoblasts surrounding these…”
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Oscillations of MyoD and Hes1 proteins regulate the maintenance of activated muscle stem cells
Published in Genes & development (01-05-2019)“…The balance between proliferation and differentiation of muscle stem cells is tightly controlled, ensuring the maintenance of a cellular pool needed for muscle…”
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A homology independent sequence replacement strategy in human cells using a CRISPR nuclease
Published in Open biology (01-01-2021)“…Precision genomic alterations largely rely on homology directed repair (HDR), but targeting without homology using the non-homologous end-joining (NHEJ)…”
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The Parkinson’s disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4
Published in Scientific reports (14-03-2019)“…Mutations within Leucine-rich repeat kinase 2 (LRRK2) are associated with late-onset Parkinson’s disease. The physiological function of LRRK2 and molecular…”
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CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia
Published in Molecular therapy (02-12-2020)“…Severe congenital neutropenia (SCN) is a monogenic disorder. SCN patients are prone to recurrent life-threatening infections. The main causes of SCN are…”
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Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues
Published in Frontiers in neuroscience (06-06-2024)“…Recently a broad range of phenotypic abnormalities related to the neurodevelopmental and neurodegenerative disorder NEDAMSS (Neurodevelopmental Disorder with…”
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Prox2 and Runx3 vagal sensory neurons regulate esophageal motility
Published in Neuron (Cambridge, Mass.) (19-07-2023)“…Vagal sensory neurons monitor mechanical and chemical stimuli in the gastrointestinal tract. Major efforts are underway to assign physiological functions to…”
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Generation of targeted mouse mutants by embryo microinjection of TALEN mRNA
Published in Nature protocols (01-12-2013)“…Genetically engineered mice are instrumental for the analysis of mammalian gene function in health and disease. As classical gene targeting, which is performed…”
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Enhancement of Precise Gene Editing by the Association of Cas9 With Homologous Recombination Factors
Published in Frontiers in genetics (30-04-2019)“…The CRISPR-Cas9 system is used for genome editing in mammalian cells by introducing double-strand breaks (DSBs) which are predominantly repaired via…”
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Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides
Published in Proceedings of the National Academy of Sciences - PNAS (05-03-2013)“…The study of genetic disease mechanisms relies mostly on targeted mouse mutants that are derived from engineered embryonic stem (ES) cells. Nevertheless, the…”
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Inducible gene deletion in astroglia and radial glia-A valuable tool for functional and lineage analysis
Published in Glia (01-07-2006)“…Astrocytes are thought to play a variety of key roles in the adult brain, such as their participation in synaptic transmission, in wound healing upon brain…”
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Enhancement of CRISPR-Cas9 induced precise gene editing by targeting histone H2A-K15 ubiquitination
Published in BMC biotechnology (23-10-2020)“…Precise genetic modifications are preferred products of CRISPR-Cas9 mediated gene editing in mammalian cells but require the repair of induced double-strand…”
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