A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
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PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinityMembrane protein transport in photoreceptors: the function of PDEδ: the Proctor lecturePhosphodiesterase 1A modulates cystogenesis in zebrafish.Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.Small-molecule modulation of Ras signaling.Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesDe Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaNovel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.An age of enlightenment for cilia: The FASEB summer research conference on the "Biology of Cilia and Flagella"Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors.RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner.MKS1 regulates ciliary INPP5E levels in Joubert syndrome.Role for the IFT-A Complex in Selective Transport to the Primary Cilium.Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions.Arl13b regulates Shh signaling from both inside and outside the cilium.INPP5E regulates phosphoinositide-dependent cilia transition zone function.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Prenylation defects in inherited retinal diseases.Classification, clinical features, and genetics of neural tube defects.Unmasking the ciliopathies: craniofacial defects and the primary cilium.The primary cilium as a cellular receiver: organizing ciliary GPCR signalingThe Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function.The cilium: a cellular antenna with an influence on obesity risk.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Ciliopathies.Photoreceptor Cilia and Retinal Ciliopathies.Genes and molecular pathways underpinning ciliopathies.Molecular genetic analysis of 30 families with Joubert syndrome.Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3.Effect of the N-Terminal Helix and Nucleotide Loading on the Membrane and Effector Binding of Arl2/3.Sorting of lipidated cargo by the Arl2/Arl3 systemA G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins.PDE6D binds to the C-terminus of RPGR in a prenylation-dependent manner.ARL13B-mediated ciliary trafficking of INPP5EPrenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.Palmitoylation of the ciliary GTPase ARL13b is necessary for its stability and its role in cilia formation.
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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2014
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
A homozygous PDE6D mutation in ...... protein to the primary cilium.
@en
A homozygous PDE6D mutation in ...... protein to the primary cilium.
@nl
type
label
A homozygous PDE6D mutation in ...... protein to the primary cilium.
@en
A homozygous PDE6D mutation in ...... protein to the primary cilium.
@nl
prefLabel
A homozygous PDE6D mutation in ...... protein to the primary cilium.
@en
A homozygous PDE6D mutation in ...... protein to the primary cilium.
@nl
P2093
P2860
P50
P356
P1433
P1476
A homozygous PDE6D mutation in ...... protein to the primary cilium.
@en
P2093
Avinash Abhyankar
Emilie Filhol
Ferechté Encha-Ravazi
Iain A Drummond
Julie Litzler
Julien Saada
Kevin J Wright
Lydie Burglen
Mandy Kwong
Marta Romani
P2860
P304
P356
10.1002/HUMU.22470
P50
P577
2014-01-01T00:00:00Z