Results 21 to 30 of about 37,661 (243)
Lysosomes, Lysosomal Storage Diseases, and Inflammation [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2016 Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease.
Calogera M. Simonaro PhD
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Highlights on Genomics Applications for Lysosomal Storage Diseases
Cells, 2020 Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome.
Valentina La Cognata +4 more
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Lysosomal Lipid Storage Diseases [PDF]
Cold Spring Harbor Perspectives in Biology, 2011 Lysosomal lipid storage diseases, or lipidoses, are inherited metabolic disorders in which typically lipids accumulate in cells and tissues. Complex lipids, such as glycosphingolipids, are constitutively degraded within the endolysosomal system by soluble hydrolytic enzymes with the help of lipid binding proteins in a sequential manner.
Schulze, H., Sandhoff, K.
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SnapShot: Lysosomal Storage Diseases. [PDF]
Cell, 2020 Lysosomal storage diseases (LSDs) represent a group of monogenic inherited metabolic disorders characterized by the progressive accumulation of undegraded substrates inside lysosomes, resulting in aberrant lysosomal activity and homeostasis. This SnapShot summarizes the intracellular localization and function of proteins implicated in LSDs.
Martina JA, Raben N, Puertollano R.
europepmc +3 more sources
Translational Science of Rare Diseases, 2016 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses,
Ferreira, Carlos R., Gahl, William A.
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Journal of Nepal Medical Association, 2009 We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year oldboy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in allfour limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula.
Binod Khatiwada, A Pokharel
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Clarifying lysosomal storage diseases [PDF]
Trends in Neurosciences, 2011 Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Mark L, Schultz +3 more
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Astrocytes and lysosomal storage diseases [PDF]
Neuroscience, 2016 Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity.
K V, Rama Rao, T, Kielian
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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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