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Therapeutic Approaches in Lysosomal Storage Diseases [PDF]

open access: yesBiomolecules, 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   +5 more sources

Lysosomal Storage Diseases-Regulating Neurodegeneration [PDF]

open access: yesJournal 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   +5 more sources

Lysosomal positioning diseases: beyond substrate storage

open access: yesOpen 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   +4 more sources

Biomarkers in Lysosomal Storage Diseases [PDF]

open access: yesDiseases, 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   +4 more sources

Lysosomal Storage Diseases

open access: yesJournal of Inborn Errors of Metabolism and Screening, 2014
Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules.
Joseph Alroy DVM, DACVP   +1 more
doaj   +5 more sources

Oncological Aspects of Lysosomal Storage Diseases [PDF]

open access: yesCells
Lysosomal 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   +3 more sources

Lysosomes, Lysosomal Storage Diseases, and Inflammation [PDF]

open access: yesJournal 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   +5 more sources

Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies [PDF]

open access: yesBiomedicines, 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   +3 more sources

Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]

open access: yesBioImpacts, 2013
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger   +2 more
doaj   +2 more sources

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