Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration - Test2 - elhamkhani - TriplyDB

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

http://www.wikidata.org/entity/Q28287923

about

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly The role of RPGR in cilia formation and actin stability Specialized Cilia in Mammalian Sensory Systems The role of primary cilia in the development and disease of the retina Molecular complexes that direct rhodopsin transport to primary cilia The Arf GAP ASAP1 provides a platform to regulate Arf4- and Rab11-Rab8-mediated ciliary receptor targeting.Trafficking in and to the primary cilium.Crosstalk of Arf and Rab GTPases en route to cilia.The Role of RPGR and Its Interacting Proteins in Ciliopathies Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.Primary cilia signaling mediates intraocular pressure sensation.A chemical screen identifies class a g-protein coupled receptors as regulators of cilia.Ciliopathies: the trafficking connection.Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15 Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Photoreceptors at a glance.Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.Molecular studies of phenotype variation in canine RPGR-XLPRA1.The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases Ciliary signaling cascades in photoreceptors Protein sorting, targeting and trafficking in photoreceptor cells Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.A ternary complex comprising transportin1, Rab8 and the ciliary targeting signal directs proteins to ciliary membranes.Molecular assemblies that control rhodopsin transport to the cilia Prenylation defects in inherited retinal diseases.Novel topography of the Rab11-effector interaction network within a ciliary membrane targeting complex.RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.

P2860

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P2860

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

http://www.wikidata.org/entity/Q28287923

description

2010 nî lūn-bûn

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2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Human Molecular Genetics

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Interaction of retinitis pigme ...... and photoreceptor degeneration

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Carlos A Murga-Zamalloa

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Johan Peranen

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Stephen J Atkins

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P2860

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Structural basis for guanine nucleotide exchange on Ran by the regulator of chromosome condensation (RCC1)

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

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

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

PLC-gamma1 and Rac1 coregulate EGF-induced cytoskeleton remodeling and cell migration

Functional dissection of Rab GTPases involved in primary cilium formation

A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport.

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

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10.1093/HMG/DDQ275

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18

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19

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2010-09-15T00:00:00Z

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45188383

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20631154

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Photoreceptor protein

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2928130

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