RPGRIP1 and cone-rod dystrophy in dogs

Tatyana Kuznetsova; Barbara Zangerl; Gustavo D. Aguirre

doi:10.1007/978-1-4614-0631-0_42

RPGRIP1 and cone-rod dystrophy in dogs

Tatyana Kuznetsova, Barbara Zangerl, Gustavo D. Aguirre

Research output: Contribution to journal › Article

3 Citations (Scopus)

Abstract

Cone-rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype. This review highlights role of the RPGRIP1, a component of complex protein networks, and its function in the primary cilium, and discusses the potential mechanisms of genotype-phenotype discordance observed in dogs with the RPGRIP1 mutation.

Original language	English
Article number	5
Pages (from-to)	321-328
Number of pages	8
Journal	Advances in Experimental Medicine and Biology
Volume	723
DOIs	https://doi.org/10.1007/978-1-4614-0631-0_42
Publication status	Published - 2012
Externally published	Yes

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Keywords

Cone-Rod Dystrophy
Photoreceptor Cilia
Polymorphism
Protein Network
RPGRIP1

Cite this

Kuznetsova, T., Zangerl, B., & Aguirre, G. D. (2012). RPGRIP1 and cone-rod dystrophy in dogs. Advances in Experimental Medicine and Biology, 723, 321-328. [5]. https://doi.org/10.1007/978-1-4614-0631-0_42

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AU - Kuznetsova, Tatyana

AU - Zangerl, Barbara

AU - Aguirre, Gustavo D.

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AB - Cone-rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype. This review highlights role of the RPGRIP1, a component of complex protein networks, and its function in the primary cilium, and discusses the potential mechanisms of genotype-phenotype discordance observed in dogs with the RPGRIP1 mutation.

KW - Cone-Rod Dystrophy

KW - Photoreceptor Cilia

KW - Polymorphism

KW - Protein Network

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10.1007/978-1-4614-0631-0_42