Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
about
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeThe CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assemblyThe role of RPGR in cilia formation and actin stabilitySpecialized Cilia in Mammalian Sensory SystemsThe role of primary cilia in the development and disease of the retinaMolecular complexes that direct rhodopsin transport to primary ciliaThe 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 CiliopathiesAblation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsPolymorphic 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-ORF15Genetic 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 RPGRAccumulation 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 vivoCiliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseasesCiliary signaling cascades in photoreceptorsProtein sorting, targeting and trafficking in photoreceptor cellsCiliopathy-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 ciliaPrenylation 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
Q24318114-A58834DC-265F-426E-8D80-A9FB638BE24DQ24319889-951822D2-040E-4D1E-9506-62CE90A899B8Q24338338-232E4932-90E2-4DF6-872E-A8516A630D89Q26785912-D740D989-7DD3-47A4-B169-88F5977BC16BQ26822720-0C39C105-EA86-4F92-BFE6-A71B4104ED68Q26860718-46BD12F0-15FC-4F7E-8326-80ABB061CBC0Q28000111-9DE6B789-958E-4181-A9FB-59E1862EE56EQ28000124-57F7A45D-365B-4B78-87FB-1E34D81BF573Q28000129-AF53276C-99D2-4BA7-901F-D5AF672FBA1AQ28081883-D4838007-B086-46E2-9CBD-77CCA5FEB049Q28263322-5B6E2DBF-E340-46FC-8FD5-E11298659199Q30528634-C83E2DB6-F3B1-43FC-A7D9-4F12F6D5B88AQ33964906-FF4D73E6-84C7-454E-B033-FF292AA6081CQ34144583-F6BB2FA2-08A7-4B16-9BA0-4BE899D18F14Q34178410-FF69F7A3-A8CC-4628-A60C-8F6795AB60E9Q34207085-D08ABECD-85D5-4833-9141-CCF684A75ECFQ34260042-1022BEEC-C0D7-4C3D-9B08-FE9E10C1A494Q34390529-95BD562C-AE4D-46CF-A797-9C58DD3A4587Q34785564-D2A231A1-837C-4213-90BE-435A67459D02Q35045072-10F5F034-D5FE-4DB3-BB39-EC29ADDBA68CQ35150162-EC377DAB-C6A7-430A-800D-609ECA924A04Q35225255-772DEEFB-9D16-4AB8-B215-84405FBCE16CQ35751018-B5968924-E36E-4029-9617-68F111FDC7B6Q35814872-7F7CA08F-3ADF-40A0-A6D0-FCD32D132D8EQ35959606-56BEF37E-E269-4502-8461-221C2960AAF4Q36008733-EAAE4661-5BB1-4CD7-9551-4B3D894ED58EQ36232633-EB46FE02-AC39-4A48-B482-04354AD65F11Q36462352-9F48104B-35D1-45AE-A4A2-BAE07510B5BDQ36676811-601AEC53-AFDD-419F-A03E-DC5694F3E2EFQ36794716-2331DA60-4EA6-491A-B26D-A6496AE1EAF8Q36961405-0435F2A6-0463-40A0-B877-8FE067943D64Q37047466-CABDAEF1-127A-4DE6-B432-5D1E9B82B84BQ37047492-758DBF94-5B85-47B5-A53D-85A601302AA2Q37138123-FAAE4E6D-F4F0-401D-8DC9-07F36107F7E2Q37336144-D9926862-C250-492F-8D66-3CDBD06E62A5Q37381274-1A82F395-6C18-4632-AECD-5594CDFC772AQ38034580-FBE5FFEB-D669-4899-B07A-F34979F87945Q38176700-FA82EEE9-7AD6-4099-A10D-F9ED01432837Q38591772-747C8644-2E65-46BA-8D02-AB25B1F5BC21Q38722345-10B6EF95-4619-44C3-A370-D65BBD9EEBFE
P2860
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Interaction of retinitis pigme ...... and photoreceptor degeneration
@ast
Interaction of retinitis pigme ...... and photoreceptor degeneration
@en
Interaction of retinitis pigme ...... and photoreceptor degeneration
@nl
type
label
Interaction of retinitis pigme ...... and photoreceptor degeneration
@ast
Interaction of retinitis pigme ...... and photoreceptor degeneration
@en
Interaction of retinitis pigme ...... and photoreceptor degeneration
@nl
prefLabel
Interaction of retinitis pigme ...... and photoreceptor degeneration
@ast
Interaction of retinitis pigme ...... and photoreceptor degeneration
@en
Interaction of retinitis pigme ...... and photoreceptor degeneration
@nl
P2093
P2860
P3181
P356
P1476
Interaction of retinitis pigme ...... and photoreceptor degeneration
@en
P2093
Carlos A Murga-Zamalloa
Johan Peranen
Stephen J Atkins
P2860
P304
P3181
P356
10.1093/HMG/DDQ275
P407
P577
2010-09-15T00:00:00Z