Therapeutic Approaches in Lysosomal Storage Diseases [PDF]
Biomolecules, 2021 Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism.
Carlos Fernández-Pereira +7 more
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Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases [PDF]
Biomedicines, 2023 Lysosomal storage diseases are a group of rare and ultra-rare genetic disorders caused by defects in specific genes that result in the accumulation of toxic substances in the lysosome.
Manoj Kumar Pandey
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Synaptic Function and Dysfunction in Lysosomal Storage Diseases [PDF]
Frontiers in Cellular Neuroscience, 2021 Lysosomal storage diseases (LSDs) with neurological involvement are inherited genetic diseases of the metabolism characterized by lysosomal dysfunction and the accumulation of undegraded substrates altering glial and neuronal function.
Rima Rebiai +5 more
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Sphingolipid lysosomal storage diseases: from bench to bedside [PDF]
Lipids in Health and Disease, 2021 Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability.
Muna Abed Rabbo +3 more
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The rapidly evolving view of lysosomal storage diseases
EMBO Molecular Medicine, 2021 Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti +2 more
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Oncological Aspects of Lysosomal Storage Diseases [PDF]
CellsLysosomal storage diseases (LSDs) are caused by the deficient activity of a lysosomal hydrolase or the lack of a functional membrane protein, transporter, activator, or other protein.
Agnieszka Ługowska
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Modeling Lysosomal Storage Diseases in the Zebrafish
Frontiers in Molecular Biosciences, 2020 Lysosomal storage diseases (LSDs) are a family of 70 metabolic disorders characterized by mutations in lysosomal proteins that lead to storage material accumulation, multiple-organ pathologies that often involve neurodegeneration, and early mortality in ...
T. Zhang, R. T. Peterson
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Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies [PDF]
Biomedicines, 2022 Lysosomal storage diseases (LSDs) are a group of metabolic diseases caused by inborn mutations of lysosomal enzymes, which lead to lysosome substrate accumulation in various cell types [...]
Valeria De Pasquale +2 more
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Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship [PDF]
Egyptian Journal of Medical Human Genetics, 2022 Background We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Heba Saed El-Amawy, Heba Dawoud
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Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases [PDF]
Frontiers in Molecular Neuroscience, 2017 Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS).
James C. Dodge
openalex +2 more sources