ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2012
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
68 citing papers in PubMed, 108 citations in OpenAlex.
- Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.Journal of neurology · 2025Trial
- 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).Journal of neurology · 2024Trial
- Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study.Orphanet journal of rare diseases · 2020Trial
- TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.Journal of translational medicine · 2026Article
- Quantification of muscle glycogen distribution in Pompe disease using 7 TeslaJournal of neurology, neurosurgery, and psychiatry · 2026Observational
- Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study.Frontiers in nutrition · 2026Article
- PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.NPJ genomic medicine · 2025Article
- Cellular Metabolic Disorders in a Cohort of Patients with Sjogren's Disease.International journal of molecular sciences · 2025Article
- Simultaneous monitoring of glycogen, creatine, and phosphocreatine in type II glycogen storage disease using saturation transfer MRI.Magnetic resonance in medicine · 2025Article
- Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.Brain : a journal of neurology · 2024Article
- Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle.Experimental physiology · 2024Review
- Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.Science translational medicine · 2024Article
- Review
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.International journal of molecular sciences · 2023Review
- Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).Current issues in molecular biology · 2023Article
- The role of amyloid β in the pathological mechanism of GNE myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.EMBO molecular medicine · 2021Article
- Suppression of lysosomal acid alpha-glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancer.Cancer science · 2021Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Macroautophagy (often referred to as autophagy) is an evolutionarily conserved intracellular system by which macromolecules and organelles are delivered to lysosomes for degradation and recycling. Autophagy is robustly induced in response to starvation in order to generate nutrients and energy through the lysosomal degradation of cytoplasmic components. Constitutive, basal autophagy serves as a quality control mechanism for the elimination of aggregated proteins and worn-out or damaged organelles, such as mitochondria. Research during the last decade has made it clear that malfunctioning or failure of this system is associated with a wide range of human pathologies and age-related diseases. Our recent data provide strong evidence for the role of autophagy in the pathogenesis of Pompe disease, a lysosomal glycogen storage disease caused by deficiency of acid alpha-glucosidase (GAA). Large pools of autophagic debris in skeletal muscle cells can be seen in both our GAA knockout model and patients with Pompe disease. In this review, we will focus on these recent data, and comment on the not so recent observations pointing to the involvement of autophagy in skeletal muscle damage in Pompe disease.
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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.