Cargando…

The X-linked Retinitis Pigmentosa protein RP2 facilitates traffic of cilia target proteins

Detalles Bibliográficos
Autores principales:	Schwarz, N, Novoselova, TV, Wait, R, Hardcastle, AJ, Cheetham, ME
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555941/ http://dx.doi.org/10.1186/2046-2530-1-S1-P45

Ejemplares similares

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
por: Lane, Amelia, et al.
Publicado: (2020)

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
por: Jiang, Jingjing, et al.
Publicado: (2017)

Differential pattern of RP1 mutations in retinitis pigmentosa
por: Zhang, Xin, et al.
Publicado: (2010)

Retinitis Pigmentosa Due to Rp1 Biallelic Variants
por: Silva, Rita Sousa, et al.
Publicado: (2020)

ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
por: Moye, Abigail R., et al.
Publicado: (2018)

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY
por: Raparia, Eva, et al.
Publicado: (2023)

Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns
por: Kortuem, Friederike C., et al.
Publicado: (2022)

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report
por: Lee, Hyun Woo, et al.
Publicado: (2023)

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa
por: Athanasiou, Dimitra, et al.
Publicado: (2017)

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
por: Nadeem, Raheela, et al.
Publicado: (2020)

Retinitis Pigmentosa (RP): The Role of Oxidative Stress in the Degenerative Process Progression
por: Vingolo, Enzo M., et al.
Publicado: (2022)

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa
por: Frio, Thomas Rio, et al.
Publicado: (2009)

Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina
por: Li, Linjing, et al.
Publicado: (2019)

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel
por: Birch, David G., et al.
Publicado: (2023)

Secretory Defect and Cytotoxicity: THE POTENTIAL DISEASE MECHANISMS FOR THE RETINITIS PIGMENTOSA (RP)-ASSOCIATED INTERPHOTORECEPTOR RETINOID-BINDING PROTEIN (IRBP)
por: Li, Songhua, et al.
Publicado: (2013)

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
por: Kabir, Firoz, et al.
Publicado: (2016)

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants
por: Patil, Suresh B., et al.
Publicado: (2011)

X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects
por: Mansouri, Vahid
Publicado: (2022)

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
por: Georgiou, Michalis, et al.
Publicado: (2023)

Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa
por: Ogino, Ken, et al.
Publicado: (2015)

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

Early Alterations of RNA Binding Protein (RBP) Homeostasis and ER Stress-Mediated Autophagy Contributes to Progressive Retinal Degeneration in the rd10 Mouse Model of Retinitis Pigmentosa (RP)
por: Yamoah, Alfred, et al.
Publicado: (2023)

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
por: Gamundi, María José, et al.
Publicado: (2006)

Deep Learning–Facilitated Study of the Rate of Change in Photoreceptor Outer Segment Metrics in RPGR-Related X-Linked Retinitis Pigmentosa
por: Wang, Yi-Zhong, et al.
Publicado: (2023)

Retinitis pigmentosa
por: Hamel, Christian
Publicado: (2006)

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
por: Wilkie, Susan E., et al.
Publicado: (2008)

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
por: Siemiatkowska, Anna M., et al.
Publicado: (2012)

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees
por: Al-Bdour, Muawyah, et al.
Publicado: (2020)

NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene
por: Strafella, Claudia, et al.
Publicado: (2019)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
por: Fiorentino, Alessia, et al.
Publicado: (2018)

Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations
por: von Krusenstiern, Lenore, et al.
Publicado: (2023)

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
por: Murga-Zamalloa, Carlos A., et al.
Publicado: (2010)

Retinal detachment in retinitis pigmentosa
por: Chan, Weng Onn, et al.
Publicado: (2020)

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
por: Arno, Gavin, et al.
Publicado: (2016)

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India
por: Gandra, Mamatha, et al.
Publicado: (2008)

Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
por: Ploier, Birgit, et al.
Publicado: (2016)

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
por: Neidhardt, John, et al.
Publicado: (2008)

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
por: Di Iorio, Valentina, et al.
Publicado: (2020)

The Burden of X-Linked Retinitis Pigmentosa on Patients and Society: A Narrative Literature Review
por: Chivers, Marie, et al.
Publicado: (2021)

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR
por: Kortüm, Friederike, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_inar4a07vmil27rlm1vdlge5jl