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Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Overview of attention for article published in Orphanet Journal of Rare Diseases, December 2013
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Title
Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
Published in
Orphanet Journal of Rare Diseases, December 2013
DOI 10.1186/1750-1172-8-192
Pubmed ID
Authors

Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

Abstract

Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved in the lipoic acid de novo pathway have recently been described (i.e., LIAS, NFU1, BOLA3, IBA57), but no mutation was found so far in genes involved in the specific process of attachment of lipoic acid to apoenzymes pyruvate dehydrogenase (PDHc), α-ketoglutarate dehydrogenase (α-KGDHc) and branched chain α-keto acid dehydrogenase (BCKDHc) complexes.

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The data shown below were collected from the profile of 1 X user 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 67 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 1%
Spain 1 1%
France 1 1%
Unknown 64 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 16%
Researcher 10 15%
Student > Bachelor 9 13%
Other 4 6%
Professor > Associate Professor 4 6%
Other 15 22%
Unknown 14 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 19 28%
Agricultural and Biological Sciences 10 15%
Medicine and Dentistry 9 13%
Unspecified 2 3%
Psychology 2 3%
Other 9 13%
Unknown 16 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 December 2013.
All research outputs
#18,357,514
of 22,736,112 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,125
of 2,604 outputs
Outputs of similar age
#215,660
of 286,036 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#51
of 58 outputs
Altmetric has tracked 22,736,112 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,604 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 6th percentile – i.e., 6% 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 286,036 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.