Cargando…

Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms

Mutations affecting the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) interactome cause syndromic retinal dystrophies. RPGRIP1 interacts with the retinitis pigmentosa GTPase regulator (RPGR) through a domain homologous to RCC1 (RHD), a nucleotide exchange factor of Ran GTPase...

Descripción completa

Detalles Bibliográficos
Autores principales:	Patil, Hemangi, Guruju, Mallikarjuna R., Cho, Kyoung-in, Yi, Haiqing, Orry, Andrew, Kim, Hyesung, Ferreira, Paulo A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Company of Biologists 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507198/ https://www.ncbi.nlm.nih.gov/pubmed/23213406 http://dx.doi.org/10.1242/bio.2011489

Ejemplares similares

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L
por: Vössing, Christine, et al.
Publicado: (2021)

Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons
por: Patil, H, et al.
Publicado: (2012)

Kinesin-1 and mitochondrial motility control by discrimination of structurally equivalent but distinct subdomains in Ran-GTP-binding domains of Ran-binding protein 2
por: Patil, Hemangi, et al.
Publicado: (2013)

Molecular Strategies for RPGR Gene Therapy
por: Cehajic Kapetanovic, Jasmina, et al.
Publicado: (2019)

Function of the Ciliopathy gene RPGRIP1L in cortical neurogenesis
por: Pézeron, G, et al.
Publicado: (2015)

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations
por: Zou, Gang, et al.
Publicado: (2021)

RPGRIP1 variant associated with pigmented paravenous chorioretinal atrophy
por: Bianco, Lorenzo, et al.
Publicado: (2023)

The Role of RPGR and Its Interacting Proteins in Ciliopathies
por: Patnaik, Sarita Rani, et al.
Publicado: (2015)

Candidate Genetic Modifiers for RPGR Retinal Degeneration
por: Appelbaum, Tatyana, et al.
Publicado: (2020)

LAFITE Reveals the Complexity of Transcript Isoforms in Subcellular Fractions
por: Zhang, Jizhou, et al.
Publicado: (2022)

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)
por: Moreno-Leon, Laura, et al.
Publicado: (2020)

Telencephalic morphogenesis is impaired in Ftm/Rpgrip1l KO mice
por: Laclef, C, et al.
Publicado: (2012)

The ciliopathy gene Rpgrip1l is essential for hair follicle development
por: Chen, Jiang, et al.
Publicado: (2014)

RPGRIP1L helps to establish the ciliary gate for entry of proteins
por: Lin, Huawen, et al.
Publicado: (2018)

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
por: Miyamichi, Daisuke, et al.
Publicado: (2019)

Translational Read-Through Therapy of RPGR Nonsense Mutations
por: Vössing, Christine, et al.
Publicado: (2020)

RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features
por: Nguyen, Xuan-Thanh-An, et al.
Publicado: (2020)

Mutation Analysis of the RPGR Gene in a Chinese Cohort
por: Liu, Hong-Li, et al.
Publicado: (2022)

Isoform-specific tethering links the Golgi ribbon to maintain compartmentalization
por: Jarvela, Timothy, et al.
Publicado: (2014)

The RPGRIP1-deficient dog, a promising canine model for gene therapy
por: Lhériteau, Elsa, et al.
Publicado: (2009)

Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity
por: Schneider-Maunoury, S, et al.
Publicado: (2012)

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration
por: Jamshidi, Farzad, et al.
Publicado: (2018)

Clinical course of cone dystrophy caused by mutations in the RPGR gene
por: Thiadens, Alberta A. H. J., et al.
Publicado: (2011)

Molecular studies of phenotype variation in canine RPGR-XLPRA1
por: Appelbaum, Tatyana, et al.
Publicado: (2016)

A large deletion in RPGR causes XLPRA in Weimaraner dogs
por: Kropatsch, Regina, et al.
Publicado: (2016)

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity
por: Mahuzier, Alexia, et al.
Publicado: (2012)

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
por: Khanna, Hemant, et al.
Publicado: (2009)

Functional analysis of the transition zone protein Rpgrip1l during zebrafish development
por: Vesque, C, et al.
Publicado: (2012)

The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium
por: Gerhardt, Christoph, et al.
Publicado: (2015)

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish
por: Raghupathy, Rakesh K., et al.
Publicado: (2017)

The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L
por: Assis, L. H. P., et al.
Publicado: (2017)

Structure of the N-terminal coiled-coil domains of the ciliary protein Rpgrip1l
por: He, Ran, et al.
Publicado: (2023)

Isoform-specific subcellular targeting of glucose transporters in mouse fibroblasts
Publicado: (1992)

RPGR: Its role in photoreceptor physiology, human disease, and future therapies
por: Megaw, Roly D., et al.
Publicado: (2015)

Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
por: Foote, Katharina G., et al.
Publicado: (2020)

Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
por: Zhang, Zhimeng, et al.
Publicado: (2019)

Identification of circular RNAs hosted by the RPGR ORF15 genomic locus
por: Appelbaum, Tatyana, et al.
Publicado: (2023)

Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa
por: De Silva, Samantha R., et al.
Publicado: (2023)

Microperimetry as an Outcome Measure in RPGR-associated Retinitis Pigmentosa Clinical Trials
por: Taylor, Laura J., et al.
Publicado: (2023)

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation
por: Miyadera, Keiko, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_pvof7ef154440klecakhgi4p7s