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Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia

Overview of attention for article published in Human Molecular Genetics, May 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (81st percentile)
  • Good Attention Score compared to outputs of the same age and source (76th percentile)

Mentioned by

twitter
4 tweeters
wikipedia
1 Wikipedia page

Readers on

mendeley
26 Mendeley
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Title
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia
Published in
Human Molecular Genetics, May 2014
DOI 10.1093/hmg/ddu218
Pubmed ID
Authors

S. M. Houten, S. Denis, H. te Brinke, A. Jongejan, A. H. C. van Kampen, E. J. Bradley, F. Baas, R. C. M. Hennekam, D. S. Millington, S. P. Young, D. M. Frazier, M. Gucsavas-Calikoglu, R. J. A. Wanders, Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ

Abstract

Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. The molecular basis of this condition is currently unknown. We describe a new case with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy suggestive of a mitochondrial disorder. Exome sequencing revealed a causal mutation in NADK2. NADK2 encodes the mitochondrial NAD kinase, which is crucial for NADP biosynthesis evidenced by decreased mitochondrial NADP(H) levels in patient fibroblasts. DECR and also the first step in lysine degradation are performed by NADP-dependent oxidoreductases explaining their in vivo deficiency. DECR activity was also deficient in lysates of patient fibroblasts and could only be rescued by transfecting patient cells with functional NADK2. Thus NADPH is not only crucial as a cosubstrate, but can also act as a molecular chaperone that activates and stabilizes enzymes. In addition to polyunsaturated fatty acid oxidation and lysine degradation, NADPH also plays a role in various other mitochondrial processes. We found decreased oxygen consumption and increased extracellular acidification in patient fibroblasts, which may explain why the disease course is consistent with clinical criteria for a mitochondrial disorder. We conclude that DECR deficiency with hyperlysinemia is caused by mitochondrial NADP(H) deficiency due to a mutation in NADK2.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 4%
Netherlands 1 4%
Unknown 24 92%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 31%
Researcher 6 23%
Student > Master 3 12%
Student > Bachelor 2 8%
Student > Postgraduate 2 8%
Other 5 19%
Readers by discipline Count As %
Agricultural and Biological Sciences 13 50%
Biochemistry, Genetics and Molecular Biology 6 23%
Medicine and Dentistry 4 15%
Chemistry 2 8%
Unspecified 1 4%
Other 0 0%

Attention Score in Context

This research output has an Altmetric Attention Score of 7. 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 05 March 2017.
All research outputs
#1,578,545
of 9,147,909 outputs
Outputs from Human Molecular Genetics
#865
of 4,410 outputs
Outputs of similar age
#32,560
of 177,536 outputs
Outputs of similar age from Human Molecular Genetics
#24
of 103 outputs
Altmetric has tracked 9,147,909 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,410 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.8. This one has done well, scoring higher than 80% of its peers.
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 177,536 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 103 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.