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  1. AU="Stef J.F. Letteboer"
  2. AU="Gewurz, H"
  3. AU="Linares, Mauricio"
  4. AU="Gnesi, Marco"
  5. AU="Park, Jinny"
  6. AU="Hill, Benjamin D"
  7. AU=Huang Chunfa
  8. AU="Skonieczny, Paul"
  9. AU="LIVINGSTON, M S"
  10. AU="Lidia Gonzalez-Quereda"
  11. AU="Korkmaz, Asli"
  12. AU="Patel, Mrinal"
  13. AU="Louis Chauvel"
  14. AU="Jampen, Laurent"
  15. AU="Tan, Jiacheng"
  16. AU="Weiss, Jonathan D"

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  1. Artikel ; Online: PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia

    Siebren Faber / Stef J. F. Letteboer / Katrin Junger / Rossano Butcher / Trinadh V. Satish Tammana / Sylvia E. C. van Beersum / Marius Ueffing / Rob W. J. Collin / Qin Liu / Karsten Boldt / Ronald Roepman

    Cells, Vol 12, Iss 312, p

    2023  Band 312

    Abstract: Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In this ... ...

    Abstract Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In this study, we purified the prenylated cargo of PDE6D by affinity proteomics to gain insight into PDE6D-associated disease mechanisms. By this approach, we have identified a specific set of PDE6D-interacting proteins that are involved in photoreceptor integrity, GTPase activity, nuclear import, or ubiquitination. Among these interacting proteins, we identified novel ciliary cargo proteins of PDE6D, including FAM219A, serine/threonine-protein kinase NIM1 (NIM1K), and ubiquitin-like protein 3 (UBL3). We show that NIM1K and UBL3 localize inside the cilium in a prenylation-dependent manner. Furthermore, UBL3 also localizes in vesicle-like structures around the base of the cilium. Through affinity proteomics of UBL3, we confirmed its strong interaction with PDE6D and its association with proteins that regulate small extracellular vesicles (sEVs) and ciliogenesis. Moreover, we show that UBL3 localizes in specific photoreceptor cilium compartments in a prenylation-dependent manner. Therefore, we propose that UBL3 may play a role in the sorting of proteins towards the photoreceptor outer segment, further explaining the development of PDE6D-associated retinal degeneration.
    Schlagwörter PDE6D ; FAM219A ; NIM1K ; UBL3 ; protein trafficking ; prenylation ; Biology (General) ; QH301-705.5
    Thema/Rubrik (Code) 570
    Sprache Englisch
    Erscheinungsdatum 2023-01-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

    Kari-Anne M. Frikstad / Elisa Molinari / Marianne Thoresen / Simon A. Ramsbottom / Frances Hughes / Stef J.F. Letteboer / Sania Gilani / Kay O. Schink / Trond Stokke / Stefan Geimer / Lotte B. Pedersen / Rachel H. Giles / Anna Akhmanova / Ronald Roepman / John A. Sayer / Sebastian Patzke

    Cell Reports, Vol 28, Iss 7, Pp 1907-1922.e

    2019  Band 6

    Abstract: Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood. Here, we show ... ...

    Abstract Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood. Here, we show that cep104 silencing in zebrafish causes cilia-related manifestations: shortened cilia in Kupffer’s vesicle, heart laterality, and cranial nerve development defects. We show that another Joubert syndrome-associated cilia tip protein, CSPP1, interacts with CEP104 at microtubules for the regulation of axoneme length. We demonstrate in human telomerase reverse transcriptase-immortalized retinal pigmented epithelium (hTERT-RPE1) cells that ciliary translocation of Smoothened in response to Hedgehog pathway stimulation is both CEP104 and CSPP1 dependent. However, CEP104 is not required for the ciliary recruitment of CSPP1, indicating that an intra-ciliary CEP104-CSPP1 complex controls axoneme length and Hedgehog signaling competence. Our in vivo and in vitro analyses of CEP104 define its interaction with CSPP1 as a requirement for the formation of Hedgehog signaling-competent cilia, defects that underlie Joubert syndrome. : Deleterious mutations in CEP104 or CSPP1 cause Joubert syndrome, a ciliopathy causing an underdeveloped mid- and/or hindbrain. Frikstad et al. show that loss of cep104 in zebrafish leads to defective brain development and that CEP104 interacts with CSPP1 at the tip of the primary cilium to regulate axoneme length and Hedgehog signaling competence. Keywords: CEP104, CSPP1, ciliopathies, Hedgehog signaling, primary cilium, Joubert syndrome, centriolar satellites, MT plus end
    Schlagwörter Biology (General) ; QH301-705.5
    Thema/Rubrik (Code) 572 ; 571
    Sprache Englisch
    Erscheinungsdatum 2019-08-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: CiliaCarta

    Teunis J P van Dam / Julie Kennedy / Robin van der Lee / Erik de Vrieze / Kirsten A Wunderlich / Suzanne Rix / Gerard W Dougherty / Nils J Lambacher / Chunmei Li / Victor L Jensen / Michel R Leroux / Rim Hjeij / Nicola Horn / Yves Texier / Yasmin Wissinger / Jeroen van Reeuwijk / Gabrielle Wheway / Barbara Knapp / Jan F Scheel /
    Brunella Franco / Dorus A Mans / Erwin van Wijk / François Képès / Gisela G Slaats / Grischa Toedt / Hannie Kremer / Heymut Omran / Katarzyna Szymanska / Konstantinos Koutroumpas / Marius Ueffing / Thanh-Minh T Nguyen / Stef J F Letteboer / Machteld M Oud / Sylvia E C van Beersum / Miriam Schmidts / Philip L Beales / Qianhao Lu / Rachel H Giles / Radek Szklarczyk / Robert B Russell / Toby J Gibson / Colin A Johnson / Oliver E Blacque / Uwe Wolfrum / Karsten Boldt / Ronald Roepman / Victor Hernandez-Hernandez / Martijn A Huynen

    PLoS ONE, Vol 14, Iss 5, p e

    An integrated and validated compendium of ciliary genes.

    2019  Band 0216705

    Abstract: The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary ... ...

    Abstract The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been implicated in two distinct non-ciliary processes, causes ciliogenic and ciliopathy-associated tissue phenotypes when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 956 genes. The resource can be used to objectively prioritize candidate genes in whole exome or genome sequencing of ciliopathy patients and can be accessed at http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2019-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Correction

    Miriam Schmidts / Yuqing Hou / Claudio R. Cortés / Dorus A. Mans / Celine Huber / Karsten Boldt / Mitali Patel / Jeroen van Reeuwijk / Jean-Marc Plaza / Sylvia E. C. van Beersum / Zhi Min Yap / Stef J. F. Letteboer / S. Paige Taylor / Warren Herridge / Colin A. Johnson / Peter J. Scambler / Marius Ueffing / Hulya Kayserili / Deborah Krakow /
    Stephen M. King / UK10K / Philip L. Beales / Lihadh Al-Gazali / Carol Wicking / Valerie Cormier-Daire / Ronald Roepman / Hannah M. Mitchison / George B. Witman

    Nature Communications, Vol 7, Iss 1, Pp 1-

    Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    2016  Band 1

    Abstract: 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 included the following: PLB was supported by the ... ...

    Abstract 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 included the following: PLB was supported by the National Institute for Health Research BiomedicalResearch Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2016-03-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    Karsten Boldt / Jeroen van Reeuwijk / Qianhao Lu / Konstantinos Koutroumpas / Thanh-Minh T. Nguyen / Yves Texier / Sylvia E. C. van Beersum / Nicola Horn / Jason R. Willer / Dorus A. Mans / Gerard Dougherty / Ideke J. C. Lamers / Karlien L. M. Coene / Heleen H. Arts / Matthew J. Betts / Tina Beyer / Emine Bolat / Christian Johannes Gloeckner / Khatera Haidari /
    Lisette Hetterschijt / Daniela Iaconis / Dagan Jenkins / Franziska Klose / Barbara Knapp / Brooke Latour / Stef J. F. Letteboer / Carlo L. Marcelis / Dragana Mitic / Manuela Morleo / Machteld M. Oud / Moniek Riemersma / Susan Rix / Paulien A. Terhal / Grischa Toedt / Teunis J. P. van Dam / Erik de Vrieze / Yasmin Wissinger / Ka Man Wu / Gordana Apic / Philip L. Beales / Oliver E. Blacque / Toby J. Gibson / Martijn A. Huynen / Nicholas Katsanis / Hannie Kremer / Heymut Omran / Erwin van Wijk / Uwe Wolfrum / François Kepes / Erica E. Davis / Brunella Franco / Rachel H. Giles / Marius Ueffing / Robert B. Russell / Ronald Roepman / UK10K Rare Diseases Group

    Nature Communications, Vol 7, Iss 1, Pp 1-

    2016  Band 13

    Abstract: Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new ... ...

    Abstract Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new insights into several biological processes and diseases.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2016-05-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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