Oliver E. Blacque

C. elegans septins regulate a subset of sensory neuronal cilia via cell-non autonomous mechanisms in supporting glia

Emilia Filipczak, Sofia Tsiropoulou, Oliver E. Blacque

ABSTRACT Primary cilia rely on compartmentalisation mechanisms that establish the organelle’s protein and lipid composition. In mammalian cells, septin GTPases are reported to facilitate cilium formation, function and molecular composition by regulating a membrane diffusion barrier at the ciliary base transition zone …

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Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis

Manu Ahmed, Sydney Fischer, Karyn L. Robert, Karen I. Lange et autres

TMEM67 mutations cause Meckel-Gruber syndrome and other related ciliopathies. TMEM67 is involved in both ciliary transition zone assembly, and non-canonical Wnt signaling mediated by its extracellular domain. How TMEM67 performs these two separate functions is not known. We identify a cleavage motif …

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Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis

Manu Ahmed, Sydney Fischer, Karyn L. Robert, Karen I. Lange et autres

ABSTRACT TMEM67 mutations are the major cause of Meckel-Gruber syndrome. TMEM67 is involved in both ciliary transition zone assembly, and non-canonical Wnt signaling mediated by its extracellular domain. How TMEM67 performs these two separate functions is not known. We identify a novel …

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CilioGenics: an integrated method and database for predicting novel ciliary genes

Mustafa S Pir, Efe Begar, Ferhan Yenisert, Hasan Demirci et autres

Uncovering the full list of human ciliary genes holds enormous promise for the diagnosis of cilia-related human diseases, collectively known as ciliopathies. Currently, genetic diagnoses of many ciliopathies remain incomplete (1-3). While various independent approaches theoretically have the potential to reveal the …

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Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies

Ailís Moran, Laura Louzao-Martinez, Dominic P. Norris, Dorien J.M. Peters et autres

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Gene therapy for RAB28: What can we learn from zebrafish?

Ailís Moran, John D. Fehilly, Oliver E. Blacque, Breandán N. Kennedy

The eye is particularly suited to gene therapy due to its accessibility, immunoprivileged state and compartmentalised structure. Indeed, many clinical trials are underway for therapeutic gene strategies for inherited retinal degenerations (IRDs). However, as there are currently 281 genes associated with IRD, …

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CilioGenics: an integrated method and database for predicting novel ciliary genes

Mustafa S Pir, Ferhan Yenisert, Aslı Karaman, Efe Begar et autres

Abstract Discovering the entire list of human ciliary genes would help in the diagnosis of cilia-related human disorders known as ciliopathy, but at present the genetic diagnosis of many ciliopathies (over 30%) is far from complete (Bachmann-Gagescu et al., 2015; Knopp et …

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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Paul Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham et autres

Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile cilia propel sperm or extracellular fluids, and their dysfunction causes primary ciliary dyskinesia. Non-motile cilia serve as sensory/signalling antennae on most cell types, and their disruption causes single-organ ciliopathies such as …

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Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28

Ailís Moran, Stephen P. Carter, Joanna J. Kaylor, Zhichun Jiang et autres

RAB28 is a farnesylated, ciliary G-protein. Patient variants in RAB28 are causative of autosomal recessive cone-rod dystrophy (CRD), an inherited human blindness. In rodent and zebrafish models, the absence of Rab28 results in diminished dawn, photoreceptor, outer segment phagocytosis (OSP). Here, we …

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Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) inCaenorhabditis elegans

Karen I. Lange, Sunayna Best, Sofia Tsiropoulou, Ian Berry et autres

Better methods are required to interpret the pathogenicity of disease-associated variants of uncertain significance (VUS), which cannot be actioned clinically. In this study, we explore the use of an animal model (Caenorhabditis elegans) for in vivo interpretation of missense VUS alleles of …

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Deciphering the role of Rab28 in cone vision and outer segment phagocytosis

Ailís Moran, Stephen P. Carter, Joanna J. Kaylor, Roxana A. Radu et autres

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CDKL kinase regulates the length of the ciliary proximal segment

Kwangjin Park, Chunmei Li, Sofia Tsiropoulou, João Gonçalves et autres

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