Results 11 to 20 of about 37,603 (244)
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
doaj +4 more sources
Biomarkers in Lysosomal Storage Diseases [PDF]
Diseases, 2016 A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal
Joaquin Bobillo Lobato +2 more
doaj +3 more sources
Lysosomal storage diseases [PDF]
Journal of Veterinary and Animal Sciences, 2021 Lysosomes play a pivotal role in cellular processes through an active interplay of enzymes, lysosomal membrane proteins, and cytosolic proteins. Lysosomal storage diseases are a group of inherited and acquired disorders.
Smitha Rose Georgy
doaj +3 more sources
Lysosomal Storage Diseases-Regulating Neurodegeneration [PDF]
Journal of Experimental Neuroscience, 2015 Autophagy is a complex pathway regulated by numerous signaling events that recycles macromolecules and can be perturbed in lysosomal storage diseases (LSDs). The concept of LSDs, which are characterized by aberrant, excessive storage of cellular material
Rob U. Onyenwoke, Jay E. Brenman
doaj +4 more sources
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
doaj +2 more sources
Lysosomal positioning diseases: beyond substrate storage
Open Biology, 2022 Lysosomal storage diseases (LSDs) comprise a group of inherited monogenic disorders characterized by lysosomal dysfunctions due to undegraded substrate accumulation.
Gianluca Scerra +5 more
doaj +3 more sources
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
doaj +2 more sources
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
doaj +4 more sources
Nature Reviews Disease Primers, 2018 Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur.
Frances M Platt +2 more
exaly +4 more sources
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
doaj +2 more sources