A5020806631- Genetic and Kidney Cyst Diseases
- Protist diversity and phylogeny
- Microtubule and mitosis dynamics
- Hedgehog Signaling Pathway Studies
- Renal and related cancers
- Micro and Nano Robotics
- Epigenetics and DNA Methylation
- Immune Response and Inflammation
- Genetics, Aging, and Longevity in Model Organisms
- Tissue Engineering and Regenerative Medicine
- Medical Imaging and Pathology Studies
- Fetal and Pediatric Neurological Disorders
- Genetic Syndromes and Imprinting
- Immune Cell Function and Interaction
- Cytokine Signaling Pathways and Interactions
- CRISPR and Genetic Engineering
- Cellular transport and secretion
University of Southern Denmark
2019-2025
University College Dublin
2015-2019
Brandeis University
2017
German Cancer Research Center
2012-2013
DKFZ-ZMBH Alliance
2012-2013
Heidelberg University
2012-2013
University Hospital Heidelberg
2013
Kiel University
2007
Cilia formation is a multi-step process that starts with the docking of vesicle at distal part mother centriole. This step marks conversion centriole into basal body, from which axonemal microtubules extend to form ciliary compartment. How vesicles are stably attached initiate membrane biogenesis unknown. Here, we investigate molecular role centriolar component Cep164 in ciliogenesis. We show was indispensable for Using biochemical and functional assays, identified components vesicular...
Despite the critical contributions of cilia to embryonic development and human health, key regulators formation await identification. In this paper, a functional RNA interference–based screen linked 30 novel protein kinases with ciliogenesis. Of them, we have studied role microtubule (MT)-associated protein/MT affinity regulating kinase 4 (MARK4) in depth. MARK4 associated basal body ciliary axoneme murine cell lines. Ultrastructural analyses established that activity was required for...
In differentiated human cells, primary cilia fulfill essential functions in converting mechanical or chemical stimuli into intracellular signals. Formation and maintenance of require multiple associated with the centriole-derived basal body, from which axonemal microtubules grow assembles a gate to maintain specific ciliary proteome. Here we characterize function novel centriolar satellite protein, synovial sarcoma X breakpoint-interacting protein 2 (SSX2IP), assembly cilia. We show that...
Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis frequently extends the phenotype to tissues such as eye, kidney, skeleton craniofacial structures. Using autozygome exome analyses, we identified a null mutation in KIAA0556 multiplex consanguineous family hallmark features mild syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential...
Intraflagellar transport (IFT) is a fundamental process driving ciliogenesis in most eukaryotic organisms. IFT172, the largest protein of IFT complex, plays crucial role cilium formation and associated with several disease variants causing ciliopathies. While IFT172 tethered to IFT-B complex via its N-terminal domains, function C-terminal domains has remained elusive. Here, we reveal that part interacts IFT-A subunits, providing molecular basis for bridging complexes. We determine crystal...
Intraflagellar transport (IFT) is a fundamental process driving ciliogenesis in most eukaryotic organisms. IFT172, the largest protein of IFT complex, plays crucial role cilium formation and associated with several disease variants causing ciliopathies. While IFT172 tethered to IFT-B complex via its N-terminal domains, function C-terminal domains has remained elusive. Here, we reveal that part interacts IFT-A subunits, providing molecular basis for bridging complexes. We determine crystal...
Article21 August 2019Open Access Source DataTransparent process Rab35 controls cilium length, function and membrane composition Stefanie Kuhns Corresponding Author [email protected] orcid.org/0000-0002-3065-7818 School of Biomolecular Biomedical Science, University College Dublin, Dublin 4, Ireland Department Biochemistry Molecular Biology, Southern Denmark, Odense M, Denmark Search for more papers by this author Cecília Seixas orcid.org/0000-0002-7364-4320 CEDOC, NOVA Medical...
Abstract Kazatskaya et al. uncover a role for the atypical MAP kinase MAPK15 in regulating primary cilium structure and morphology both C. elegans human.. Motile immotile (or primary) cilia are microtubule-based structures that mediate multiple cellular functions, including transduction of environmental cues, developmental signaling, motility, modulation fluid flow. Although their core architectures similar, motile exhibit marked structural differences underlie distinct functional...
Primary cilia are microtubule-based sensory organelles whose assembly and function rely on the conserved bidirectional intraflagellar transport (IFT) system, which is powered by anterograde kinesin-2 retrograde cytoplasmic dynein-2 motors. Nematodes additionally employ a cell-type-specific kinesin-3 motor, KLP-6, moves within independently of IFT regulates ciliary content function. Here, we provide evidence that KLP-6 homolog, KIF13B, undergoes bursts movement primary cultured immortalized...
Abstract Intraflagellar transport (IFT) is essential for the formation and function of microtubule-based primary cilium, which acts as a sensory signalling device at cell surface. Consisting IFT-A/B BBSome cargo adaptors that associate with molecular motors, IFT transports protein into (anterograde IFT) out (retrograde cilium. In this study, we identify mostly uncharacterised ERICH3 component mammalian Loss causes abnormally short cilia results in accumulation proteins ciliary tip, together...
Abstract Intraflagellar transport (IFT) is a fundamental process driving ciliogenesis in most eukaryotic organisms. IFT172, the largest protein of IFT complex, plays crucial role cilium formation and associated with several disease variants causing ciliopathies. While IFT172 tethered to IFT-B complex via its N-terminal domains, function C-terminal domains has remained elusive. Here, we reveal that part interacts IFT-A subunits, providing molecular basis for bridging complexes. We determine...
Abstract Primary cilia are microtubule-based sensory organelles whose assembly and function rely on the conserved bidirectional intraflagellar transport (IFT) system, which is powered by anterograde kinesin-2 retrograde cytoplasmic dynein 2 motors. Nematodes additionally employ a cell type-specific kinesin-3 motor, KLP-6, moves within independently of IFT regulates ciliary content function. Here we provide evidence that KLP-6 homolog, KIF13B, undergoes bursts movement primary cultured...
The primary cilium is a microtubule-based organelle that projects from the surface of most vertebrate cells and plays crucial role in number signaling processes. Even though an increasing cilia-associated proteins have been identified past decade, molecular mechanisms controlling cilia formation remain poorly understood. Here, we performed RNA interference (RNAi) based screen using telomerase-immortalized human epithelial retina (RPE1) to search for kinases kinase-associated with...