Results 31 to 40 of about 37,504 (145)
Cells, 2021 Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
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Neuroinflammatory paradigms in lysosomal storage diseases
Frontiers in Neuroscience, 2015 Lysosomal storage diseases (LSDs) include approximately 70 distinct disorders that collectively account for 14% of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, which impairs ...
Megan Elizabeth Bosch, Tammy eKielian
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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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Synaptic Function and Dysfunction in Lysosomal Storage Diseases
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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Lysosomal storage disease overview [PDF]
Annals of Translational Medicine, 2018 The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
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Relationship of Lysosomal Storage Diseases (LSD) with Autophagy
Van Tıp Dergisi, 2022 Lysosomes are organelles that degrade damaged components or structures that have completed their functions and have roles in the last step of the autophagy pathway. Damage of the autophagy-lysosome pathway can cause vital problems for the cell. Lysosomal
Seda Keskin +2 more
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Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region
مجلة الكوفة الطبيةBackground and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
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Combined Therapies for Lysosomal Storage Diseases
Current Molecular Medicine, 2015 Lysosomal storage diseases (LSDs) is a group consisting of over 50 disorders caused mostly by dysfunctions of lysosomal proteins and resultant accumulation of particular compounds inside cells and extracellular volumes in affected organisms. Genetic diseases are among the most difficult targets for medical treatment.
Magdalena Gabig-Cimińska +8 more
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Българска неврология, 2023 Lysosomal storage diseases involve about 50 rare genetic metabolic diseases engaging various mutations/pathological variants that cause enzyme deficiency and lysosomal dysfunction due to accumulation of certain substrates in them: lipids, glycoproteins,
Ivan Milanov +2 more
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The Role of Exosomes in Lysosomal Storage Disorders
Biomolecules, 2021 Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason +3 more
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