Results 41 to 50 of about 38,108 (242)
CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]
Romanian Journal of Pediatrics, 2017 Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
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Heliyon, 2022 Lysosomal biogenesis is an essential adaptive process by which lysosomes exert their function in maintaining cellular homeostasis. Defects in lysosomal enzymes and functions lead to lysosome-related diseases, including lysosomal storage diseases and ...
Xiao Ding +11 more
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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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FEBS Open Bio, EarlyView.UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová +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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