Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
about
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary ciliumThe retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaRab and Arf proteins in genetic diseasesMKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesisMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formationIdentification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsUpdate on the molecular genetics of retinitis pigmentosaLoss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in miceAblation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationMembrane protein transport in photoreceptors: the function of PDEδ: the Proctor lectureNormal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variantsInteraction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.HPMV: human protein mutation viewer - relating sequence mutations to protein sequence architecture and function changes.RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosaLong-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Molecular chaperones and photoreceptor function.RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.Revisiting the tubulin folding pathway: new roles in centrosomes and cilia.Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sortingPathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish.Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodeling.Membrane Proteomic Insights into the Physiology and Taxonomy of an Oleaginous Green Microalga.Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.A centriolar FGR1 oncogene partner-like protein required for paraflagellar rod assembly, but not axoneme assembly in African trypanosomes
P2860
Q24297630-8611609D-388D-4B13-B665-D07DE54ADF49Q24315798-DD96FE40-F542-4249-9DA9-E18E6925C6B7Q24612935-0FB9CCB7-7CF7-4651-9FFB-24ED04792BB6Q26862704-54F43FDA-75A7-486F-99A0-34AC8F062D98Q28000044-DA2F51EC-18EF-465B-99AE-B91DDEC57B98Q28114957-C58E936E-1157-4971-B756-E7FAB544077BQ28117679-75E07752-16ED-496B-9587-6417838FD7D7Q28207567-5DE29212-E271-4AB0-9D4C-57764AC67DC5Q28216433-30F20B0A-253E-4144-93D8-1452786CD659Q28267539-90E4F176-78FB-49BB-8412-F961C6B32C4CQ28292199-EFAB25D2-B553-4259-8767-1DC644A3D8BBQ28610521-8B434282-3862-44C2-9D6F-E724DB24DFB1Q33834326-F0F65035-E6D0-49EC-B15C-553FFFD53910Q33954839-F471DD35-2C8E-4F6C-A1C5-C0D299CD4CE6Q34140482-E344F467-8BE9-48AB-A571-EDE4294185C8Q34211989-148147DF-9B70-4D6A-BB91-19B8AAAB174AQ34442266-A8599795-A035-4313-B25B-12CBA71470F0Q35576525-A4F3AEE6-33C1-4210-93DF-9E040B2840BEQ35591946-87EC1CC8-DFDF-40FB-8396-FD46FAECAD73Q35822099-BD1B4BB4-7C31-4F0F-883F-0097007B71ECQ36083346-8ACC1F73-BE16-44D6-863D-F3F7CA754A62Q36226969-42366E66-6E28-48C3-A47F-F3316020C148Q36299499-BA9364F9-8D68-41A9-B0E2-DA0B22994DE4Q36585455-9810D667-A1E2-42D4-827C-A8B007AA6BDEQ37167901-C10058EA-32AF-4EA5-B951-C9774D2BE28DQ37585291-10003BAF-CC75-4C96-B59B-5C0985C54BB4Q37704572-51E5F108-ACBF-47FA-AD10-43AFBDB30091Q38472491-33FB8B30-CA5B-47C9-8C42-26CB09C59244Q40662460-59681780-D434-4683-A927-6305B07E977DQ47073229-C82DE6F4-D782-4BC2-883A-CFB75FDE2D11Q47073265-A63D0FBC-87CC-483F-A65D-260792F5E10BQ48183464-3DD0A2C9-8253-497F-8D28-66CA7D551F53Q48231325-D345608D-52DC-4938-8F5E-1D611FFCD5EBQ50025735-1226C3F4-0E33-41C5-9F55-2B1209C8248BQ57651406-504167DF-492A-40C7-91FF-529D3C610681
P2860
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
description
2000 nî lūn-bûn
@nan
2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutations in the N-terminus of ...... protein to the plasma membrane
@ast
Mutations in the N-terminus of ...... protein to the plasma membrane
@en
Mutations in the N-terminus of ...... protein to the plasma membrane
@nl
type
label
Mutations in the N-terminus of ...... protein to the plasma membrane
@ast
Mutations in the N-terminus of ...... protein to the plasma membrane
@en
Mutations in the N-terminus of ...... protein to the plasma membrane
@nl
prefLabel
Mutations in the N-terminus of ...... protein to the plasma membrane
@ast
Mutations in the N-terminus of ...... protein to the plasma membrane
@en
Mutations in the N-terminus of ...... protein to the plasma membrane
@nl
P2093
P50
P356
P1476
Mutations in the N-terminus of ...... protein to the plasma membrane
@en
P2093
L A Spackman
M E Cheetham
P304
P356
10.1093/HMG/9.13.1919
P407
P577
2000-08-01T00:00:00Z