ArticleThe FEBS journal2018
Degradation of altered mitochondria by autophagy is impaired in Lafora disease.
Article in The FEBS journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 31 citations in OpenAlex.
- Identification of alterations of immunometabolism associated with Pompe disease.Cellular and molecular life sciences : CMLS · 2026Article
- Adeno-Associated Virus-Based Gene Therapy for Lafora Disease inInternational journal of molecular sciences · 2025Article
- Advances in gene therapy for Lafora disease: Intravenous recombinant adeno-associated virus-mediated delivery of EPM2A and EPM2B genes.Clinical and translational medicine · 2025Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- Gene therapy for Lafora disease in the Epm2aMolecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease.Neurobiology of disease · 2023Article
- Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress.International journal of molecular sciences · 2023Article
- TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy.Neurobiology of disease · 2023Article
- Glial Contributions to Lafora Disease: A Systematic Review.Biomedicines · 2022Review
- Trehalose Treatment in Zebrafish Model of Lafora Disease.International journal of molecular sciences · 2022Article
- Lafora disease: Current biology and therapeutic approaches.Revue neurologique · 2022Review
- Utilization of Human Samples for Assessment of Mitochondrial Bioenergetics: Gold Standards, Limitations, and Future Perspectives.Life (Basel, Switzerland) · 2021Review
- Article
- Modulators of Neuroinflammation Have a Beneficial Effect in a Lafora Disease Mouse Model.Molecular neurobiology · 2021Article
- Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.International journal of molecular sciences · 2021Review
- BCL2L13: physiological and pathological meanings.Cellular and molecular life sciences : CMLS · 2021Review
- Down-regulating miR-217-5p Protects Cardiomyocytes against Ischemia/Reperfusion Injury by Restoring Mitochondrial Function via Targeting SIRT1.Inflammation · 2021Article
- Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities.Expert reviews in molecular medicine · 2020Review
- Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.Antioxidants (Basel, Switzerland) · 2020Review
- Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases.Journal of molecular biology · 2020Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Lafora disease (LD) is a fatal neurodegenerative disorder caused mostly by mutations in either of two genes encoding laforin and malin. LD is characterized by accumulation of a poorly branched form of glycogen in the cytoplasm of neurons and other cells. We previously reported dysfunctional mitochondria in different LD models. Now, using mitochondrial uncouplers and respiratory chain inhibitors, we have investigated with human fibroblasts a possible alteration in the selective degradation of damaged mitochondria (mitophagy) in LD. By flow cytometry of MitoTracker-labelled cells and measuring the levels of various mitochondrial proteins by western blot, we found in LD fibroblasts a partial impairment in the increased mitochondrial degradation produced by these treatments. In addition, colocalization of mitochondrial and lysosomal markers decreased in LD fibroblasts. All these results are consistent with a partial impairment in the induced autophagic degradation of dysfunctional mitochondria in LD fibroblasts. However, canonical recruitment of Parkin to mitochondria under these conditions remained unaffected in LD fibroblasts, and also in SH-SY5Y cells after malin and laforin overexpression. Neither mitochondrial localization nor protein levels of Bcl-2-like protein 13, another component of the mitophagic machinery that operates under these conditions, were affected in LD fibroblasts. In contrast, although these treatments raised autophagy in both control and LD fibroblasts, this enhanced autophagy was clearly lower in the latter cells. Therefore, the autophagic degradation of altered mitochondria is impaired in LD, which is due to a partial defect in the autophagic response and not in the canonical mitophagy signalling pathways.
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