You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency
|
|---|---|
| Published in |
Stem Cells, May 2017
|
| DOI | 10.1002/stem.2634 |
| Pubmed ID | |
| Authors |
Damià Romero‐Moya, Carlos Santos‐Ocaña, Julio Castaño, Gloria Garrabou, José A. Rodríguez‐Gómez, Vanesa Ruiz‐Bonilla, Clara Bueno, Patricia González‐Rodríguez, Alessandra Giorgetti, Eusebio Perdiguero, Cristina Prieto, Constanza Moren‐Nuñez, Daniel J. Fernández‐Ayala, Maria Victoria Cascajo, Iván Velasco, Josep Maria Canals, Raquel Montero, Delia Yubero, Cristina Jou, José López‐Barneo, Francesc Cardellach, Pura Muñoz‐Cánoves, Rafael Artuch, Plácido Navas, Pablo Menendez |
| Abstract |
Coenzyme Q10 (CoQ10 ) plays a crucial role in mitochondria as an electron carrier within the mitochondrial respiratory chain (MRC), and is an essential antioxidant. Mutations in genes responsible for CoQ10 biosynthesis (COQ genes) cause primary CoQ10 deficiency, a rare and heterogeneous mitochondrial disorder with no clear genotype-phenotype association, mainly affecting tissues with high-energy demand including brain and skeletal muscle (SkM). Here, we report a 4-year old girl diagnosed with minor mental retardation and lethal rhabdomyolysis harboring a heterozygous mutation (c.483G>C (E161D)) in COQ4. The patient's fibroblasts showed a decrease in [CoQ10 ], CoQ10 biosynthesis, MRC activity affecting complexes I/II+III, and respiration defects. Bona fide induced pluripotent stem cell (iPSCs) lines carrying the COQ4 mutation (CQ4-iPSCs) were generated, characterized and genetically edited using the CRISPR-Cas9 system (CQ4(ed) -iPSCs). Extensive differentiation and metabolic assays of control-iPSCs, CQ4-iPSCs and CQ4(ed) -iPSCs demonstrated a genotype association, reproducing the disease phenotype. The COQ4 mutation in iPSC was associated with CoQ10 deficiency, metabolic dysfunction, and respiration defects. iPSC differentiation into SkM was compromised, and the resulting SkM also displayed respiration defects. Remarkably, iPSC differentiation in dopaminergic or motor neurons was unaffected. This study offers an unprecedented iPSC model recapitulating CoQ10 deficiency-associated functional and metabolic phenotypes caused by COQ4 mutation. This article is protected by copyright. All rights reserved. |
X Demographics
The data shown below were collected from the profiles of 10 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 4 | 40% |
| Unknown | 6 | 60% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 7 | 70% |
| Practitioners (doctors, other healthcare professionals) | 2 | 20% |
| Scientists | 1 | 10% |
Mendeley readers
The data shown below were compiled from readership statistics for 79 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 79 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 13 | 16% |
| Student > Master | 9 | 11% |
| Student > Ph. D. Student | 8 | 10% |
| Student > Bachelor | 8 | 10% |
| Other | 6 | 8% |
| Other | 22 | 28% |
| Unknown | 13 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 25 | 32% |
| Medicine and Dentistry | 10 | 13% |
| Neuroscience | 7 | 9% |
| Agricultural and Biological Sciences | 7 | 9% |
| Pharmacology, Toxicology and Pharmaceutical Science | 5 | 6% |
| Other | 8 | 10% |
| Unknown | 17 | 22% |
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 08 December 2017.
All research outputs
#5,937,536
of 22,968,808 outputs
Outputs from Stem Cells
#1,686
of 3,912 outputs
Outputs of similar age
#94,281
of 313,684 outputs
Outputs of similar age from Stem Cells
#25
of 41 outputs
Altmetric has tracked 22,968,808 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 3,912 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.6. This one has gotten more attention than average, scoring higher than 56% 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 313,684 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 69% of its contemporaries.
We're also able to compare this research output to 41 others from the same source and published within six weeks on either side of this one. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.