ReviewMolecular genetics and metabolism2020
Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.
Review in Molecular genetics and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Skeletal muscle disorders as risk factors for type 2 diabetes.Molecular and cellular endocrinology · 2025Review
- Brain Glycogen-Its Metabolic Role in Neuronal Health and Neurological Disorders-An Extensive Narrative Review.Metabolites · 2025Review
- Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.International journal of molecular sciences · 2025Review
- Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning.Scientific reports · 2024Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.European journal of neurology · 2024Article
- Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.JCI insight · 2024Article
- Does Autophagy have a Role in the Pathogenesis of Pediatric Hepatic Steatosis?Asian Pacific journal of cancer prevention : APJCP · 2024Article
- Cell-type specific role of autophagy in the liver and its implications in non-alcoholic fatty liver disease.World journal of hepatology · 2023Article
- Lafora Disease: A Case Report and Evolving Treatment Advancements.Brain sciences · 2023Article
- Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.Molecular genetics & genomic medicine · 2023Article
- From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.International journal of molecular sciences · 2023Review
- Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.Frontiers in neurology · 2023Article
- CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.Scientific reports · 2022Article
- Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases.Life (Basel, Switzerland) · 2022Review
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.Autophagy · 2022Article
- A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.Orphanet journal of rare diseases · 2021Article
- Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
The glycogen storage diseases are a group of inherited metabolic disorders that are characterized by specific enzymatic defects involving the synthesis or degradation of glycogen. Each disorder presents with a set of symptoms that are due to the underlying enzyme deficiency and the particular tissues that are affected. Autophagy is a process by which cells degrade and recycle unneeded or damaged intracellular components such as lipids, glycogen, and damaged mitochondria. Recent studies showed that several of the glycogen storage disorders have abnormal autophagy which can disturb normal cellular metabolism and/or mitochondrial function. Here, we provide a clinical overview of the glycogen storage disorders, a brief description of autophagy, and the known links between specific glycogen storage disorders and autophagy.
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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.