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Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex

Overview of attention for article published in Frontiers in Molecular Biosciences, August 2016
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Title
Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex
Published in
Frontiers in Molecular Biosciences, August 2016
DOI 10.3389/fmolb.2016.00049
Pubmed ID
Authors

Peter Bross, Paula Fernandez-Guerra

Abstract

Heat shock protein 60 (HSP60) forms together with heat shock protein 10 (HSP10) double-barrel chaperonin complexes that are essential for folding to the native state of proteins in the mitochondrial matrix space. Two extremely rare monogenic disorders have been described that are caused by missense mutations in the HSPD1 gene that encodes the HSP60 subunit of the HSP60/HSP10 chaperonin complex. Investigations of the molecular mechanisms underlying these disorders have revealed that different degrees of reduced HSP60 function produce distinct neurological phenotypes. While mutations with deleterious or strong dominant negative effects are not compatible with life, HSPD1 gene variations found in the human population impair HSP60 function and depending on the mechanism and degree of HSP60 dys- and mal-function cause different phenotypes. We here summarize the knowledge on the effects of disturbances of the function of the HSP60/HSP10 chaperonin complex by disease-associated mutations.

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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 %
Unknown 53 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 14 26%
Researcher 10 19%
Student > Bachelor 6 11%
Student > Master 4 8%
Professor 2 4%
Other 3 6%
Unknown 14 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 19 36%
Agricultural and Biological Sciences 4 8%
Medicine and Dentistry 4 8%
Neuroscience 3 6%
Chemistry 3 6%
Other 4 8%
Unknown 16 30%
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 31 August 2016.
All research outputs
#18,468,369
of 22,884,315 outputs
Outputs from Frontiers in Molecular Biosciences
#1,963
of 3,810 outputs
Outputs of similar age
#258,295
of 337,459 outputs
Outputs of similar age from Frontiers in Molecular Biosciences
#19
of 35 outputs
Altmetric has tracked 22,884,315 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 3,810 research outputs from this source. They receive a mean Attention Score of 3.3. This one is in the 33rd percentile – i.e., 33% 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 337,459 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 35 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.