2010
DOI: 10.1167/iovs.09-4312
|View full text |Cite
|
Sign up to set email alerts
|

The Intraflagellar Transport Protein Ift80 Is Essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy

Abstract: Purpose Jeune's Asphyxiating Thoracic Dystrophy (JATD) is an autosomal recessive disorder with symptoms of retinal degeneration, kidney cysts, and chondrodysplasia and results from mutations in the ift80 gene. This study was conducted to characterize zebrafish lacking ift80 function for photoreceptor degeneration and defects in ciliogenesis in order to establish zebrafish as a vertebrate model for visual dysfunction in JATD and to determine if ift80 interacts genetically with Bardet-Biedl Syndrome (BBS) genes.… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1
1

Citation Types

3
34
0

Year Published

2010
2010
2024
2024

Publication Types

Select...
7
2
1

Relationship

0
10

Authors

Journals

citations
Cited by 42 publications
(37 citation statements)
references
References 51 publications
(74 reference statements)
3
34
0
Order By: Relevance
“…Consistent with such a role, cilia in Cep290 mutants had abnormal accumulations and reductions of various IFT and BBS proteins (34). Interactions between IFT and BBS proteins have been identified in C. elegans (59) and zebrafish retina (60). OSs continuously elongate as the outermost disks are engulfed by the RPE, explaining the importance of the ciliary axoneme to constantly supply new disk components.…”
Section: Figurementioning
confidence: 88%
“…Consistent with such a role, cilia in Cep290 mutants had abnormal accumulations and reductions of various IFT and BBS proteins (34). Interactions between IFT and BBS proteins have been identified in C. elegans (59) and zebrafish retina (60). OSs continuously elongate as the outermost disks are engulfed by the RPE, explaining the importance of the ciliary axoneme to constantly supply new disk components.…”
Section: Figurementioning
confidence: 88%
“…For example, a mutation in the IFT-A particle protein, IFT144 (also known as WDR19 ) is associated with retinal, renal, skeletal and other abnormalities known as Jeune and Sensenbrenner syndromes (Bredrup et al, 2011). A series of subsequent studies used the power of zebrafish genetics to demonstrate that mutations in multiple IFT components can all prevent proper outer segment formation (Bahadori et al, 2003; Davis et al, 2011; Hudak et al, 2010; Krock and Perkins, 2008; Omori et al, 2008; Sukumaran and Perkins, 2009; Tsujikawa and Malicki, 2004). …”
Section: Protein Sorting and Traffickingmentioning
confidence: 99%
“…Defective IFT80 produces a zebrafish model of jeune thoracic asphyxiating dystrophy (Hudak et al, 2010). Mutations in IFT22 and IFT43 result in Sensenbrenner syndrome, a disorder featuring craniofacial abnormalities due to defects in Shh signaling (Arts et al, 2011; Walczak-Sztulpa et al, 2010).…”
Section: Diseases Of Abnormal Ciliary Formation and Maintenancementioning
confidence: 99%