0000000000731185

AUTHOR

Marion Failler

showing 2 related works from this author

Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length

2013

International audience; Septins are a large, evolutionarily conserved family of GTPases that form hetero-oligomers and interact with the actin-based cytoskeleton and microtubules. They are involved in scaffolding functions, and form diffusion barriers in budding yeast, the sperm flagellum and the base of primary cilia of kidney epithelial cells. We investigated the role of septins in the primary cilium of retinal pigmented epithelial (RPE) cells, and found that SEPT2 forms a 1:1:1 complex with SEPT7 and SEPT9 and that the three members of this complex colocalize along the length of the axoneme. Similar to observations in kidney epithelial cells, depletion of cilium-localized septins by siRN…

AxonemeAxonemeMicrotubule-associated protein[SDV]Life Sciences [q-bio]DIFFUSION BARRIERTUBULINCell Cycle Proteinsmacromolecular substancesORGANIZATIONCYTOSKELETONBiologySeptinMicrotubulesRetinaCell Line03 medical and health sciences0302 clinical medicineMicrotubuleCiliogenesisHumansCiliaCytoskeletonMolecular BiologyAFFINITY-REGULATING KINASEActin030304 developmental biologyCILIOGENESIS0303 health sciencesPrimary ciliumCOMPLEXSperm flagellumCilium030302 biochemistry & molecular biologyColocalizationEpithelial CellsAnatomyCell BiologyActinsCell biology[SDV] Life Sciences [q-bio]MAMMALIAN SEPTINSMAP4CELLSbiological phenomena cell phenomena and immunityMicrotubule-Associated Proteins030217 neurology & neurosurgerySeptinsDevelopmental BiologyResearch Article
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

2015

KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as well as abnormal response to SHH-signaling activation in cells derived from affected individuals, consistent with a role of KIAA0586 in primary cilia biogenesis. Whereas centriolar maturation seemed una…

Heart Defects CongenitalMolecular Sequence DataCell Cycle ProteinsBiologyShort Rib-Polydactyly SyndromeCiliopathies03 medical and health sciencesFatal OutcomeCiliogenesisReportGLI3GeneticsmedicineHumansGenetics(clinical)Europe EasternGenetics (clinical)030304 developmental biologyGenetics0303 health sciencesLikelihood FunctionsShort rib – polydactyly syndromePolydactylyBase SequenceCilium030305 genetics & hereditySequence Analysis DNAmedicine.diseasePhenotypeHuman geneticsHedgehog signaling pathwayFounder EffectPedigreePhenotypeCodon NonsenseCentriolar satelliteErratumHand Deformities CongenitalCiliary Motility DisordersHydrocephalus
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