ArticleHuman genetics2004
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 48 citations in OpenAlex.
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro.Italian journal of pediatrics · 2025Article
- Pyruvate dehydrogenase B regulates myogenic differentiation via the FoxP1-Arih2 axis.Journal of cachexia, sarcopenia and muscle · 2023Article
- A Missense Variant inBiomedicines · 2022Article
- Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit.Journal of critical care medicine (Universitatea de Medicina si Farmacie din Targu-Mures) · 2019Article
- Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex.Cellular and molecular life sciences : CMLS · 2018Article
- Remodeling adipose tissue through in silico modulation of fat storage for the prevention of type 2 diabetes.BMC systems biology · 2017Article
- Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.Molecular genetics and metabolism reports · 2016Article
- The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Journal of inherited metabolic disease · 2015Review
- Low-frequency stimulation regulates metabolic gene expression in paralyzed muscle.Journal of applied physiology (Bethesda, Md. : 1985) · 2015Article
- A minimal dose of electrically induced muscle activity regulates distinct gene signaling pathways in humans with spinal cord injury.PloS one · 2014Article
- Efficient utilization of aerobic metabolism helps Tibetan locusts conquer hypoxia.BMC genomics · 2013Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Review
- ß-Cell-specific pyruvate dehydrogenase deficiency impairs glucose-stimulated insulin secretion.American journal of physiology. Endocrinology and metabolism · 2010Article
- PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.Journal of inherited metabolic disease · 2009Article
- Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.Journal of inherited metabolic disease · 2009Article
- Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.Human genetics · 2009Article
- Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.European journal of pediatrics · 2009Article
- Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery.Mitochondrion · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the E1beta subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1alpha subunit. Both patients had reduced immunoreactive E1beta protein and both had missense mutations in the E1beta gene. Activity of the PDH complex was restored in cultured fibroblasts from both patients by transfection and expression of the normal E1beta coding sequence.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.