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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Overview of attention for article published in American Journal of Human Genetics, June 2018
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (66th percentile)

Mentioned by

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8 tweeters
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2 Facebook pages

Citations

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12 Dimensions

Readers on

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29 Mendeley
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Title
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
Published in
American Journal of Human Genetics, June 2018
DOI 10.1016/j.ajhg.2018.03.022
Pubmed ID
Authors

Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster

Abstract

Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcystein synthetase (PPCS) catalyzes the second step of the pathway during which phosphopantothenate reacts with ATP and cysteine to form phosphopantothenoylcystein. Inborn errors of CoA biosynthesis have been implicated in neurodegeneration with brain iron accumulation (NBIA), a group of rare neurological disorders characterized by accumulation of iron in the basal ganglia and progressive neurodegeneration. Exome sequencing in five individuals from two unrelated families presenting with dilated cardiomyopathy revealed biallelic mutations in PPCS, linking CoA synthesis with a cardiac phenotype. Studies in yeast and fruit flies confirmed the pathogenicity of identified mutations. Biochemical analysis revealed a decrease in CoA levels in fibroblasts of all affected individuals. CoA biosynthesis can occur with pantethine as a source independent from PPCS, suggesting pantethine as targeted treatment for the affected individuals still alive.

Twitter Demographics

The data shown below were collected from the profiles of 8 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 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 17%
Student > Ph. D. Student 4 14%
Other 3 10%
Student > Master 3 10%
Student > Bachelor 3 10%
Other 6 21%
Unknown 5 17%
Readers by discipline Count As %
Medicine and Dentistry 8 28%
Biochemistry, Genetics and Molecular Biology 5 17%
Nursing and Health Professions 2 7%
Neuroscience 2 7%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 4 14%
Unknown 7 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 12 December 2018.
All research outputs
#3,662,100
of 14,021,395 outputs
Outputs from American Journal of Human Genetics
#2,195
of 4,666 outputs
Outputs of similar age
#90,448
of 274,972 outputs
Outputs of similar age from American Journal of Human Genetics
#43
of 52 outputs
Altmetric has tracked 14,021,395 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 4,666 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 14.6. This one has gotten more attention than average, scoring higher than 52% 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 274,972 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 66% of its contemporaries.
We're also able to compare this research output to 52 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.