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 › peer-review

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

Keywords

Cone-Rod Dystrophy
Photoreceptor Cilia
Polymorphism
Protein Network
RPGRIP1

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

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title = "RPGRIP1 and cone-rod dystrophy in dogs",

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.",

keywords = "Cone-Rod Dystrophy, Photoreceptor Cilia, Polymorphism, Protein Network, RPGRIP1",

author = "Tatyana Kuznetsova and Barbara Zangerl and Aguirre, {Gustavo D.}",

year = "2012",

doi = "10.1007/978-1-4614-0631-0_42",

language = "English",

volume = "723",

pages = "321--328",

journal = "Advances in Experimental Medicine and Biology",

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T1 - RPGRIP1 and cone-rod dystrophy in dogs

AU - Kuznetsova, Tatyana

AU - Zangerl, Barbara

AU - Aguirre, Gustavo D.

PY - 2012

Y1 - 2012

N2 - 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.

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

KW - RPGRIP1

U2 - 10.1007/978-1-4614-0631-0_42

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

M3 - Article

C2 - 22183349

VL - 723

SP - 321

EP - 328

JO - Advances in Experimental Medicine and Biology

JF - Advances in Experimental Medicine and Biology

SN - 2214-8019

M1 - 5

ER -

RPGRIP1 and cone-rod dystrophy in dogs

Abstract

Keywords

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