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A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration

Overview of attention for article published in Nature Communications, January 2013
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

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3 X users
wikipedia
1 Wikipedia page

Citations

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23 Dimensions

Readers on

mendeley
53 Mendeley
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1 CiteULike
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Title
A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration
Published in
Nature Communications, January 2013
DOI 10.1038/ncomms2420
Pubmed ID
Authors

Satoshi Nojima, Toshihiko Toyofuku, Hiroyuki Kamao, Chie Ishigami, Jun Kaneko, Tatsusada Okuno, Hyota Takamatsu, Daisuke Ito, Sujin Kang, Tetsuya Kimura, Yuji Yoshida, Keiko Morimoto, Yohei Maeda, Atsushi Ogata, Masahito Ikawa, Eiichi Morii, Katsuyuki Aozasa, Junichi Takagi, Masayo Takahashi, Atsushi Kumanogoh

Abstract

Semaphorin 4A (Sema4A) has an essential role in photoreceptor survival. In humans, mutations in Sema4A are thought to contribute to retinal degenerative diseases. Here we generate a series of knock-in mouse lines with corresponding mutations (D345H, F350C or R713Q) in the Sema4A gene and find that Sema4A(F350C) causes retinal degeneration phenotypes. The F350C mutation results in abnormal localization of the Sema4A protein, leading to impaired endosomal sorting of molecules indispensable for photoreceptor survival. Additionally, protein structural modelling reveals that the side chain of the 350th amino acid is critical to retain the proper protein conformation. Furthermore, Sema4A gene transfer successfully prevents photoreceptor degeneration in Sema4A(F350C/F350C) and Sema4A(-/-) mice. Thus, our findings not only indicate the importance of the Sema4A protein conformation in human and mouse retina homeostasis but also identify a novel therapeutic target for retinal degenerative diseases.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 2%
United States 1 2%
Australia 1 2%
Unknown 50 94%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 15 28%
Researcher 14 26%
Student > Master 5 9%
Professor 3 6%
Lecturer 2 4%
Other 5 9%
Unknown 9 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 18 34%
Medicine and Dentistry 8 15%
Biochemistry, Genetics and Molecular Biology 7 13%
Neuroscience 7 13%
Immunology and Microbiology 1 2%
Other 1 2%
Unknown 11 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 February 2015.
All research outputs
#6,387,185
of 22,694,633 outputs
Outputs from Nature Communications
#34,656
of 46,696 outputs
Outputs of similar age
#70,049
of 282,817 outputs
Outputs of similar age from Nature Communications
#146
of 260 outputs
Altmetric has tracked 22,694,633 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 46,696 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.4. This one is in the 25th percentile – i.e., 25% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 282,817 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.
We're also able to compare this research output to 260 others from the same source and published within six weeks on either side of this one. This one is in the 42nd percentile – i.e., 42% of its contemporaries scored the same or lower than it.