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PMID: 18022666 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.

Vision research ·Vol. 47 ·No. 27 ·2007-12-00 ·Pages 3394-407

Abd-El-Barr MM, Sykoudis K, Andrabi S, Eichers ER, Pennesi ME, Tan PL, Wilson JH, Katsanis N, Lupski JR, Wu SM

Abstract

Bardet-Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired intraflagellar transport (IFT). In this study, we study the Bbs4-null mouse and investigate photoreceptor structure and function after loss of this gene. We find that Bbs4-null mice have defects in the transport of phototransduction proteins from the inner segments to the outer segments, before signs of cell death. Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors.

MeSH Terms
Animals Apoptosis Bardet-Biedl Syndrome/metabolism,pathology,physiopathology Carrier Proteins/metabolism Electroretinography Immunohistochemistry Male Mice Mice, Knockout Microscopy, Electron Microtubule-Associated Proteins/analysis,genetics,metabolism Models, Animal Photoreceptor Cells/chemistry,metabolism,ultrastructure Protein Transport Rod Opsins/metabolism Synaptic Transmission Vision, Ocular
Chemicals
Bbs1 protein, mouse Carrier Proteins Microtubule-Associated Proteins Rod Opsins
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Abd-El-Barr Muhammad M
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Sykoudis Kristen
Andrabi Sara
Eichers Erica R
Pennesi Mark E
Tan Perciliz L
Wilson John H
Katsanis Nicholas
Lupski James R
Wu Samuel M
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Article Info
Journal
Vision research
Abbr.
Vision Res
ISSN
0042-6989
DOI
10.1016/j.visres.2007.09.016
Published
2007-12-00
Pages
3394-407
Language
English
Region
England
NLM ID
0417402
PMCID
PMC2661240
Subset
IM
Grants
NEI NIH HHS · EY 04446 · United States
NEI NIH HHS · EY 02520 · United States
NEI NIH HHS · R01 EY004446-26 · United States
NIDDK NIH HHS · T32 DK007696 · United States
NEI NIH HHS · EY 011731 · United States
NIDDK NIH HHS · DK007696 · United States
NICHD NIH HHS · R01 HD042601 · United States
NEI NIH HHS · R01 EY011731-10S1 · United States
NEI NIH HHS · R01 EY011731 · United States
NICHD NIH HHS · HD04260 · United States
NEI NIH HHS · P30 EY002520-289005 · United States
NICHD NIH HHS · R01 HD042601-05 · United States
NEI NIH HHS · R01 EY004446 · United States
NEI NIH HHS · P30 EY002520 · United States
External Links
PubMed source DOI: 10.1016/j.visres.2007.09.016 PMC Full Text View journal details
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