Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans

by Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque
Published 2021-01-01

Genetic Deletion of Zebrafish Rab28 Causes Defective Outer Segment Shedding, but Not Retinal Degeneration

by Stephen P. Carter, Stephen P. Carter, Ailís L. Moran, Ailís L. Moran, David Matallanas, Gavin J. McManus, Oliver E. Blacque, Oliver E. Blacque, Breandán N. Kennedy, Breandán N. Kennedy
Published 2020-03-01

Structural and Functional Recovery of Sensory Cilia in C. elegans IFT Mutants upon Aging.

by Astrid Cornils, Ashish K Maurya, Lauren Tereshko, Julie Kennedy, Andrea G Brear, Veena Prahlad, Oliver E Blacque, Piali Sengupta
Published 2016-12-01

MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion.

by Marco Gallo, Donha Park, Dan S Luciani, Katarzyna Kida, Ferdinando Palmieri, Oliver E Blacque, James D Johnson, Donald L Riddle
Published 2011-03-01

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.

by Laura E Yee, Francesc R Garcia-Gonzalo, Rachel V Bowie, Chunmei Li, Julie K Kennedy, Kaveh Ashrafi, Oliver E Blacque, Michel R Leroux, Jeremy F Reiter
Published 2015-11-01

Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding

by Jyothi S Akella, Stephen P Carter, Ken Nguyen, Sofia Tsiropoulou, Ailis L Moran, Malan Silva, Fatima Rizvi, Breandan N Kennedy, David H Hall, Maureen M Barr, Oliver E Blacque
Published 2020-02-01

Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25.

by Victor L Jensen, Nathan J Bialas, Sharon L Bishop-Hurley, Laurie L Molday, Katarzyna Kida, Phuong Anh T Nguyen, Oliver E Blacque, Robert S Molday, Michel R Leroux, Donald L Riddle
Published 2010-11-01

Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.

by Victor L Jensen, Stephen Carter, Anna A W M Sanders, Chunmei Li, Julie Kennedy, Tiffany A Timbers, Jerry Cai, Noemie Scheidel, Breandán N Kennedy, Ryan D Morin, Michel R Leroux, Oliver E Blacque
Published 2016-12-01

EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling

by Catrina M Loucks, Kwangjin Park, Denise S Walker, Andrea H McEwan, Tiffany A Timbers, Evan L Ardiel, Laura J Grundy, Chunmei Li, Jacque-Lynne Johnson, Julie Kennedy, Oliver E Blacque, William Schafer, Catharine H Rankin, Michel R Leroux
Published 2019-02-01

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

by Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux
Published 2016-03-01

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

by Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque
Published 2013-01-01

CiliaCarta: An integrated and validated compendium of ciliary genes.

by 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, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
Published 2019-01-01

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

by 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
Published 2016-05-01