The primary cilium as a cellular signaling center: lessons from disease - Test2 - elhamkhani - TriplyDB

The primary cilium as a cellular signaling center: lessons from disease

The primary cilium as a cellular signaling center: lessons from disease

http://www.wikidata.org/entity/Q24632942

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Joubert Syndrome and related disorders A method for measuring electrical signals in a primary cilium CCDC41 is required for ciliary vesicle docking to the mother centriole The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model Ciliogenesis and the DNA damage response: a stressful relationship Cilia/Ift protein and motor -related bone diseases and mouse models Osteocytes: master orchestrators of bone Scrutinizing ciliopathies by unraveling ciliary interaction networks Cilia are required for asymmetric nodal induction in the sea urchin embryo Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25 A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution.A Conserved Role for Girdin in Basal Body Positioning and Ciliogenesis Disruption of a ciliary B9 protein complex causes Meckel syndrome Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons The primary cilium: a signalling centre during vertebrate development Uni-directional ciliary membrane protein trafficking by a cytoplasmic retrograde IFT motor and ciliary ectosome shedding.Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy A role for primary cilia in glutamatergic synaptic integration of adult-born neurons Leading-process actomyosin coordinates organelle positioning and adhesion receptor dynamics in radially migrating cerebellar granule neurons Novel approaches to studying the genetic basis of cerebellar development 'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.Specific alpha- and beta-tubulin isotypes optimize the functions of sensory Cilia in Caenorhabditis elegans Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia Cilia in the CNS: the quiet organelle claims center stage Subcellular spatial regulation of canonical Wnt signalling at the primary cilium Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.Cilium, centrosome and cell cycle regulation in polycystic kidney disease.Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment.The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.The primary cilium as a biomarker in the hypoxic adaptation of bone marrow-derived mesenchymal stromal cells: a role for the secreted frizzled-related proteins Developmental disruptions underlying brain abnormalities in ciliopathies.Hooked! Modeling human disease in zebrafish.Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.Annual Research Review: Development of the cerebral cortex: implications for neurodevelopmental disorders

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P2860

The primary cilium as a cellular signaling center: lessons from disease

http://www.wikidata.org/entity/Q24632942

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2009 nî lūn-bûn

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2009 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2009 թվականի հունիսին հրատարակված գիտական հոդված

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2009年の論文

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The primary cilium as a cellular signaling center: lessons from disease

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The primary cilium as a cellular signaling center: lessons from disease

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The primary cilium as a cellular signaling center: lessons from disease

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The primary cilium as a cellular signaling center: lessons from disease

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J.GDE.2009.04.008

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Current Opinion in Genetics & Development

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The primary cilium as a cellular signaling center: lessons from disease

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P2860

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

HEF1-dependent Aurora A activation induces disassembly of the primary cilium

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

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Madeline Lancaster

Joseph G Gleeson

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26248328

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