24 Result(s)
within
Karsten Boldt
English
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Protocol
Affinity Purification of Intraflagellar Transport (IFT) Proteins in Mice Using Endogenous Streptavidin/FLAG Tags
Biological complexity is achieved through elaborate interactions between relatively few individual components. Affinity purification (AP) has allowed these networks of protein-protein interactions that regulat...
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Article
Open AccessAberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in motor neurons (MN) are hal...
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Article
Open AccessSynaptotagmin-13 orchestrates pancreatic endocrine cell egression and islet morphogenesis
During pancreas development endocrine cells leave the ductal epithelium to form the islets of Langerhans, but the morphogenetic mechanisms are incompletely understood. Here, we identify the Ca2+-independent atypi...
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Open AccessThe Na+-activated K+ channel Slack contributes to synaptic development and plasticity
Human mutations of the Na+-activated K+ channel Slack (KCNT1) are associated with epilepsy and intellectual disability. Accordingly, Slack knockout mice (Slack−/−) exhibit cognitive flexibility deficits in distin...
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Article
Open AccessActivity of the mouse Notch ligand DLL1 is sensitive to C-terminal tagging in vivo
The mammalian Notch ligand DLL1 has essential functions during development. To visualise DLL1 in tissues, for sorting and enrichment of DLL1-expressing cells, and to efficiently purify DLL1 protein complexes w...
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Open AccessBardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles
Primary cilia are microtubule based sensory organelles important for receiving and processing cellular signals. Recent studies have shown that cilia also release extracellular vesicles (EVs). Because EVs have ...
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Open AccessThe highly conserved FOXJ1 target CFAP161 is dispensable for motile ciliary function in mouse and Xenopus
Cilia are protrusions of the cell surface and composed of hundreds of proteins many of which are evolutionary and functionally well conserved. In cells assembling motile cilia the expression of numerous ciliar...
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Open AccessCFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar bea...
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Article
Open AccessExtensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D
Protein-protein-interaction networks (PPINs) organize fundamental biological processes, but how oncogenic mutations impact these interactions and their functions at a network-level scale is poorly understood. ...
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Open AccessTranscriptional and metabolic rewiring of colorectal cancer cells expressing the oncogenic KRASG13D mutation
Activating mutations in KRAS frequently occur in colorectal cancer (CRC) patients, leading to resistance to EGFR-targeted therapies.
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Open AccessThe evolutionary conserved FOXJ1 target gene Fam183b is essential for motile cilia in Xenopus but dispensable for ciliary function in mice
The transcription factor FOXJ1 is essential for the formation of motile cilia throughout the animal kingdom. Target genes therefore likely constitute an important part of the motile cilia program. Here, we rep...
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Open AccessCharacterizing the morbid genome of ciliopathies
Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge...
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Open AccessA subset of RAB proteins modulates PP2A phosphatase activity
Protein phosphatase 2A (PP2A) is one of the most abundant serine–threonine phosphatases in mammalian cells. PP2A is a hetero-trimeric holoenzyme participating in a variety of physiological processes whose dere...
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Article
Open AccessAn organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defect...
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Open AccessCorrection: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Nature Communications 6: Article number:7074 (2015); Published: 05 June 2015; Updated: 29 Marrch 2016 The financial support for this article was not fully acknowledged. The Acknowledgements should have include...
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Article
Open AccessKIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome rela...
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Article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance...
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Article
Open AccessTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we ...
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Article
Open AccessExpression of leukemia inhibitory factor in Müller glia cells is regulated by a redox-dependent mRNA stability mechanism
Photoreceptor degeneration is a main hallmark of many blinding diseases making protection of photoreceptors crucial to prevent vision loss. Thus, regulation of endogenous neuroprotective factors may be key for...
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Protocol
Applying SILAC for the Differential Analysis of Protein Complexes
Pull-downs based on tag fusion proteins as well as immunoprecipitations (IP) are widely used methods to analyze protein interactions. Selectivity and specificity of both methods are compromised by nonspecific ...
