Cargando…

The RPGRIP1-deficient dog, a promising canine model for gene therapy

PURPOSE: To evaluate the RPGRIP1-deficient miniature longhaired dachshund (MLHD) dog as a potential candidate for gene therapy. METHODS: Six RPGRIP1-deficient MLHD dogs from our dog colony have been observed for two years using a variety of noninvasive procedures. These included bilateral full-field...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lhériteau, Elsa, Libeau, Lyse, Stieger, Knut, Deschamps, Jack-Yves, Mendes-Madeira, Alexandra, Provost, Nathalie, Lemoine, Francoise, Mellersh, Cathryn, Ellinwood, N. Matthew, Cherel, Yan, Moullier, Philippe, Rolling, Fabienne
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642837/ https://www.ncbi.nlm.nih.gov/pubmed/19223988

Ejemplares similares

Transgene Regulation Using the Tetracycline-Inducible TetR-KRAB System after AAV-Mediated Gene Transfer in Rodents and Nonhuman Primates
por: Le Guiner, Caroline, et al.
Publicado: (2014)

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

Immuno-Histochemical Analysis of Rod and Cone Reaction to RPE65 Deficiency in the Inferior and Superior Canine Retina
por: Klein, Daniela, et al.
Publicado: (2014)

In vivo gene regulation using tetracycline-regulatable systems()
por: Stieger, Knut, et al.
Publicado: (2009)

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

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation
por: Forman, Oliver P, et al.
Publicado: (2012)

Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology
por: Das, Rueben G., et al.
Publicado: (2017)

Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy
por: Takahashi, Kei, et al.
Publicado: (2023)

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)

Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy
por: Miyadera, Keiko, et al.
Publicado: (2012)

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)

Author Correction: Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology
por: Das, Rueben G., et al.
Publicado: (2018)

Genome-Wide Association Study Identifies a Novel Canine Glaucoma Locus
por: Ahonen, Saija J., et al.
Publicado: (2013)

Detection of DNA Double Strand Breaks by γH2AX Does Not Result in 53bp1 Recruitment in Mouse Retinal Tissues
por: Müller, Brigitte, et al.
Publicado: (2018)

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)

DNA testing and domestic dogs
por: Mellersh, Cathryn
Publicado: (2011)

The genetics of eye disorders in the dog
por: Mellersh, Cathryn S
Publicado: (2014)

Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds
por: Jenkins, Christopher A., et al.
Publicado: (2021)

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)

Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms
por: Patil, Hemangi, et al.
Publicado: (2011)

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)

A genome-wide association study of deafness in three canine breeds
por: Hayward, Jessica J., et al.
Publicado: (2020)

RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis
por: Choi, Yeon Ja, et al.
Publicado: (2019)

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients
por: Torii, Kaoruko, et al.
Publicado: (2023)

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
por: Duque-Cordoba, Paola Andrea, et al.
Publicado: (2023)

An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers
por: Downs, Louise M., et al.
Publicado: (2014)

Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to an RPGRIP1 Mutation
por: Narfström, Kristina, et al.
Publicado: (2012)

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing
por: Imani, Saber, et al.
Publicado: (2017)

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
por: Perrault, Isabelle, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_8t8kkrj8dqc8511lars0jf3fp0