Cargando…

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models

The photoreceptor outer segment is a highly specialized primary cilium that is essential for phototransduction and vision. Biallelic pathogenic variants in the cilia-associated gene CEP290 cause non-syndromic Leber congenital amaurosis 10 (LCA10) and syndromic diseases, where the retina is also affe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Corral-Serrano, Julio C., Sladen, Paul E., Ottaviani, Daniele, Rezek, Olivia F., Athanasiou, Dimitra, Jovanovic, Katarina, van der Spuy, Jacqueline, Mansfield, Brian C., Cheetham, Michael E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297203/ https://www.ncbi.nlm.nih.gov/pubmed/37371046 http://dx.doi.org/10.3390/cells12121575

Ejemplares similares

Eupatilin improves cilia defects in human CEP290 ciliopathy models
por: Corral-Serrano, JC, et al.
Publicado: (2023)

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins
por: Rachel, Rivka A, et al.
Publicado: (2012)

CEP290 is required for photoreceptor ciliogenesis and other cilia related functions
por: Rachel, RA, et al.
Publicado: (2012)

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases
por: Cardenas-Rodriguez, Magdalena, et al.
Publicado: (2021)

Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles
por: May-Simera, H, et al.
Publicado: (2012)

Characterising a novel mouse model with a mutated ciliopathy gene (Cep290) leading to Joubert Syndrome
por: Hynes, AM, et al.
Publicado: (2012)

Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290
por: Potter, Valencia L., et al.
Publicado: (2021)

Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA (CEP290) patients
por: Minella, Andrea L., et al.
Publicado: (2022)

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly
por: Kobayashi, Tetsuo, et al.
Publicado: (2014)

CiliaMiner: an integrated database for ciliopathy genes and ciliopathies
por: Turan, Merve Gül, et al.
Publicado: (2023)

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
por: Coppieters, Frauke, et al.
Publicado: (2010)

Embryonic and foetal expression patterns of the ciliopathy gene CEP164
por: Devlin, L. A., et al.
Publicado: (2020)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
por: Prosser, Suzanna L., et al.
Publicado: (2022)

An early onset cone dystrophy due to CEP290 mutation: a case report
por: Binder, Anastasia, et al.
Publicado: (2023)

CEP290 is essential for the initiation of ciliary transition zone assembly
por: Wu, Zhimao, et al.
Publicado: (2020)

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness
por: Baye, Lisa M., et al.
Publicado: (2011)

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium
por: Stowe, Timothy R., et al.
Publicado: (2012)

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
por: Karalis, Vasiliki, et al.
Publicado: (2022)

Primary cilia biogenesis and associated retinal ciliopathies
por: Chen, Holly Y., et al.
Publicado: (2020)

From disease modelling to personalised therapy in patients with CEP290 mutations
por: Molinari, Elisa, et al.
Publicado: (2017)

Knockout of the CEP290 gene in human induced pluripotent stem cells
por: Fogerty, Joseph, et al.
Publicado: (2021)

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
por: Roosing, Susanne, et al.
Publicado: (2017)

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
por: Li, Chunmei, et al.
Publicado: (2016)

Primary cilia-associated protein IFT172 in ciliopathies
por: Zheng, Nan-Xi, et al.
Publicado: (2023)

Primary cilia of the kidney: from ciliopathy to urinary concentration
por: Kim, Gheun-Ho
Publicado: (2023)

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models
por: Dulla, Kalyan, et al.
Publicado: (2018)

A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay
por: Sahli, Esra, et al.
Publicado: (2023)

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
por: Roosing, Susanne, et al.
Publicado: (2016)

The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase
por: Al-Jassar, Caezar, et al.
Publicado: (2017)

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome
por: Devlin, Laura A., et al.
Publicado: (2022)

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies
por: Rosa e Silva, Ivan, et al.
Publicado: (2022)

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
por: Powell, L., et al.
Publicado: (2020)

Remodeling Cildb, a popular database for cilia and links for ciliopathies
por: Arnaiz, O, et al.
Publicado: (2015)

Remodeling Cildb, a popular database for cilia and links for ciliopathies
por: Arnaiz, Olivier, et al.
Publicado: (2014)

The cilia-regulated proteasome and its role in the development of ciliopathies and cancer
por: Gerhardt, Christoph, et al.
Publicado: (2016)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
por: Yzer, Suzanne, et al.
Publicado: (2012)

A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
por: Rafalska, Agnieszka, et al.
Publicado: (2020)

Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation
por: Lo, Chien-Hui, et al.
Publicado: (2019)

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder
por: Praveen, Kavita, et al.
Publicado: (2015)

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis
por: Garanto, Alejandro, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ebnk5quc72q3r68e2vq29fipgg