Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III

This study provides novel insights into the metabolic dysregulations driving liver tumorigenesis in glycogen storage disease type III (GSDIII). Our findings reveal a potential link between abnormal glycogen accumulation and liver cancer, highlighting the pivotal role of lysosomal glycogen degradation in supporting tumor growth. These results are particularly important for researchers and clinicians working on metabolic liver diseases, as they suggest potential glycogen-targeting therapeutic strategies for GSDIII and other related liver disorders. Practically, they could guide future interventions aimed at modulating glycogen metabolism, offering new treatment avenues for patients with GSDIII at risk of hepatocellular carcinoma, while contributing to the broader understanding of metabolic dysregulation in cancer biology.

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Publication Details

Journal
JHEP Reports
Published
2025-12-02
DOI
https://doi.org/10.1016/j.jhepr.2025.101702
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
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article

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III

Edoardo Malfatti, Louisa Jauze, Emilie Bertil-Froidevaux, Jérémie Cosette et al.
JHEP Reports
Glycogen Storage Diseases and Myoclonus
article

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III

Edoardo Malfatti, Louisa Jauze, Emilie Bertil-Froidevaux, Jérémie Cosette, Christophe Georger, Simon Gay, Laetitia van Wittenberghe, Charlotte Mussini, Gilles Mithieux, Christophe Tatout, Araceli Aguilar-González, Fabienne Rajas, Giuseppe Ronzitti, Valle Montalvo-Romeral, Valérie Paradis, Antoine Gardin, F. Maillot, Alicia Mayeuf-Louchart, Fanny Bordier, Amandine Gautier‐Stein, Fanny Dujardin, M. Amaouche, Félicie Evrard, Gwendoline Perrot, Alicia Leblond, Philippe Labrune, Carine Zitoun-Ardon
article en

Abstract

This study provides novel insights into the metabolic dysregulations driving liver tumorigenesis in glycogen storage disease type III (GSDIII). Our findings reveal a potential link between abnormal glycogen accumulation and liver cancer, highlighting the pivotal role of lysosomal glycogen degradation in supporting tumor growth. These results are particularly important for researchers and clinicians working on metabolic liver diseases, as they suggest potential glycogen-targeting therapeutic strategies for GSDIII and other related liver disorders. Practically, they could guide future interventions aimed at modulating glycogen metabolism, offering new treatment avenues for patients with GSDIII at risk of hepatocellular carcinoma, while contributing to the broader understanding of metabolic dysregulation in cancer biology.

JHEP ReportsVol. 8(3)
Université Claude Bernard Lyon 1 (FR), Université de Tours (FR), Délégation Paris 5 (FR), Centre National de la Recherche Scientifique (FR), Inserm (FR), Université Paris-Est Créteil (FR), Université Paris Cité (FR), Université de Lille (FR), Université Paris-Saclay (FR), Hôpital Beaujon (FR), Institut Pasteur de Lille (FR), Centre Hospitalier Universitaire de Lille (FR), Sorbonne Paris Cité (FR), Centre Hospitalier Universitaire de Tours (FR), Assistance Publique – Hôpitaux de Paris (FR), Centre de Recherche Jean Pierre Aubert (FR), Clinical Investigation Center Plurithematic Tours (FR), University of Clermont Auvergne (FR), Genethon (France) (FR), Hôpitaux Universitaires Henri-Mondor (FR), Clermont Université (FR), Hôpital Antoine-Béclère (FR), Institut Mondor de Recherche Biomédicale (FR), Bicêtre Hospital (FR), Université d'Évry Val-d'Essonne (FR)
Openalex Percentile: Top 46%
Glycogen Storage Diseases and Myoclonus
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