ArticleScientific reports2017
Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa).
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03665636 (Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I), which is not on this map. Cited by 35 papers.
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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.
Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I
Who cites it
35 citing papers in PubMed, 59 citations in OpenAlex.
- A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction.Molecular genetics and metabolism reports · 2026Article
- Impaired Hepatic Glucose Metabolism Is Associated With Glucose Intolerance in Mice Carrying αActa physiologica (Oxford, England) · 2026Article
- Mitochondrial Dysfunction in Metabolic-Syndrome-Related MASLD/MASH: Metabolic Mechanisms and Therapeutic Perspectives.Metabolites · 2026Review
- Article
- Susceptibility of mice to primaryFrontiers in immunology · 2026Article
- Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.Scientific reports · 2025Article
- Shaker/Kv1 potassium channel SHK-1 protects against pathogen infection and oxidative stress in C. elegans.PLoS genetics · 2025Article
- Oral Cornstarch and Glycyrrhizin Improve Severe Liver Injury Caused by Glycogen Storage Disease Type IXa.Cureus · 2025Article
- A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.Orphanet journal of rare diseases · 2025Article
- Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- Consequences of Amyloid-β Deficiency for the Liver.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia.Genes & nutrition · 2023Article
- Tactics with Prebiotics for the Treatment of Metabolic Dysfunction-Associated Fatty Liver Disease via the Improvement of Mitophagy.International journal of molecular sciences · 2023Review
- [Research progress of the regulatory role of autophagy in metabolic liver diseases].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Article
- Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?Molecular metabolism · 2022Article
- Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?Molecular genetics and metabolism reports · 2022Article
- Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.Journal of inherited metabolic disease · 2022Observational
- Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR-associated protein 9-Mediated Gene Editing.Hepatology (Baltimore, Md.) · 2021Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
Abstract
Glycogen storage disease type Ia (GSDIa, von Gierke disease) is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, an enzyme which catalyses the final step of gluconeogenesis and glycogenolysis. Clinically, GSDIa is characterized by fasting hypoglycaemia and hepatic glycogen and triglyceride overaccumulation. The latter leads to steatohepatitis, cirrhosis, and the formation of hepatic adenomas and carcinomas. Currently, little is known about the function of various organelles and their impact on metabolism in GSDIa. Accordingly, we investigated mitochondrial function in cell culture and mouse models of GSDIa. We found impairments in oxidative phosphorylation and changes in TCA cycle metabolites, as well as decreased mitochondrial membrane potential and deranged mitochondrial ultra-structure in these model systems. Mitochondrial content also was decreased, likely secondary to decreased mitochondrial biogenesis. These deleterious effects culminated in the activation of the mitochondrial apoptosis pathway. Taken together, our results demonstrate a role for mitochondrial dysfunction in the pathogenesis of GSDIa, and identify a new potential target for the treatment of this disease. They also provide new insight into the role of carbohydrate overload on mitochondrial function in other hepatic diseases, such as non-alcoholic fatty liver disease.
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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.