Results 1 to 10 of about 56,286 (316)
The Role of Exosomes in Lysosomal Storage Disorders [PDF]
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
doaj +4 more sources
Autophagy in lysosomal storage disorders [PDF]
Autophagy, 2012 Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis, downregulation of surface receptors, inactivation of pathogenic organisms, repair of the plasma membrane
Lieberman AP +5 more
openaire +7 more sources
Lysosomal Storage Disorders and Malignancy [PDF]
Diseases, 2017 Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell.
Gregory M. Pastores, Derralynn A. Hughes
doaj +4 more sources
Impaired autophagy: The collateral damage of lysosomal storage disorders
EBioMedicine, 2021 Lysosomal storage disorders (LSDs), which number over fifty, are monogenically inherited and caused by mutations in genes encoding proteins that are involved in lysosomal function.
Rachel Myerowitz +2 more
doaj +2 more sources
Facial features of lysosomal storage disorders. [PDF]
Expert Rev Endocrinol Metab, 2022 D'Souza A, Ryan E, Sidransky E.
europepmc +3 more sources
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders [PDF]
Genes (Basel)Urizar E +17 more
europepmc +3 more sources
Lysosomal storage disorders: from biology to the clinic with reference to India. [PDF]
Lancet Reg Health Southeast Asia, 2023 Sheth J, Nair A, Jee B.
europepmc +2 more sources
Lysosomal storage disorders [PDF]
British Journal of Haematology, 2005 SummaryAlthough the first description of a lysosomal storage disorder was that of Tay‐Sachs disease in 1881, the lysosome was not discovered until 1955, by Christian De Duve. The first demonstration by Hers in 1963 of a link between an enzyme deficiency and a storage disorder (Pompe's disease) paved the way for a series of seminal discoveries about the
Gregory M. Enns, Robert D. Steiner
+5 more sources
Lysosomal storage disorders [PDF]
Nature, 2016 Lysosomal storage disorders are characterized by the presence of nondegraded material in endosomal / lysosomal compartments. Any process that interferes with the lysosomal degradation or endosomal / lysosomal transport of molecules can give rise to storage. The cause may be genetic in nature or environmental, as is the case in drug-induced lipidoses or
+6 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 +1 more source