| Title |
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype
|
|---|---|
| Published in |
Human Genetics, January 2009
|
| DOI | 10.1007/s00439-009-0629-6 |
| Pubmed ID | |
| Authors |
J. M. Cameron, M. Maj, V. Levandovskiy, C. P. Barnett, S. Blaser, N. MacKay, J. Raiman, A. Feigenbaum, A. Schulze, B. H. Robinson |
| Abstract |
Pyruvate dehydrogenase phosphatase deficiency has previously only been confirmed at the molecular level in two brothers and two breeds of dog with exercise intolerance. A female patient, who died at 6 months, presented with lactic acidemia in the neonatal period with serum lactate levels ranging from 2.5 to 17 mM. Failure of dichloroacetate to activate the PDH complex in skin fibroblasts was evident, but not in early passages. A homozygous c.277G > T (p.E93X) nonsense mutation in the PDP1 gene was identified in genomic DNA and immunoblotting showed a complete absence of PDP1 protein in mitochondria. Native PDHC activity could be restored by the addition of either recombinant PDP1 or PDP2. This highlights the role of PDP2, the second phosphatase isoform, in PDP1-deficient patients for the first time. We conclude that the severity of the clinical course associated with PDP1 deficiency can be quite variable depending on the exact nature of the molecular defect. |
Mendeley readers
The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| France | 1 | 3% |
| Unknown | 33 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 18% |
| Other | 5 | 15% |
| Student > Master | 5 | 15% |
| Researcher | 3 | 9% |
| Professor | 3 | 9% |
| Other | 5 | 15% |
| Unknown | 7 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 24% |
| Agricultural and Biological Sciences | 7 | 21% |
| Biochemistry, Genetics and Molecular Biology | 4 | 12% |
| Neuroscience | 2 | 6% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
| Other | 4 | 12% |
| Unknown | 8 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 27 August 2021.
All research outputs
#7,453,827
of 22,787,797 outputs
Outputs from Human Genetics
#933
of 2,953 outputs
Outputs of similar age
#49,623
of 170,511 outputs
Outputs of similar age from Human Genetics
#6
of 13 outputs
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