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Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic …
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may …
The multifaceted roles of the brain glycogen.
Markussen KH, Corti M, Byrne BJ, Vander Kooi CW, Sun RC, Gentry MS. Markussen KH, et al. J Neurochem. 2024 May;168(5):728-743. doi: 10.1111/jnc.15926. Epub 2023 Aug 9. J Neurochem. 2024. PMID: 37554056 Review.
Glycogen is a biologically essential macromolecule that is directly involved in multiple human diseases. While its primary role in carbohydrate storage and energy metabolism in the liver and muscle is well characterized, recent research has highlighted critical meta …
Glycogen is a biologically essential macromolecule that is directly involved in multiple human diseases. While its primary rol …
Metabolic Myopathies in the Era of Next-Generation Sequencing.
Urtizberea JA, Severa G, Malfatti E. Urtizberea JA, et al. Genes (Basel). 2023 Apr 22;14(5):954. doi: 10.3390/genes14050954. Genes (Basel). 2023. PMID: 37239314 Free PMC article. Review.
Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are now better-known. ...As a whole NGS has largely increased the diagnostic yield of metabolic myopathies, but more invasiv …
Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common dise …
[Polysaccharide amylopectin-type storage myopathy].
Calore EE, Pellissier JF, Figarella-Branger D, de Barsy T, Pouget J, Serratrice G. Calore EE, et al. Rev Neurol (Paris). 1992;148(11):696-703. Rev Neurol (Paris). 1992. PMID: 1303560 Review. French.
Muscle biopsy showed a vacuolar myopathy in type 1 fibres. The PAS positive diastase resistant deposits were made of filamentous material at electron microscopy similar to long chain glycogen. ...Some of them show systemic storage (Lafora disease, adult po …
Muscle biopsy showed a vacuolar myopathy in type 1 fibres. The PAS positive diastase resistant deposits were made of fi …