Results 1 to 10 of about 31,581 (280)
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
Andrew P Lieberman +2 more
exaly +8 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
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
A Vellodi
exaly +5 more sources
Mitochondrial Dysfunction in Lysosomal Storage Disorders [PDF]
Diseases, 2016 Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested ...
Mario de la Mata +8 more
doaj +4 more sources
Therapeutic Approaches in Lysosomal Storage Diseases
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 +2 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
Orphanet Journal of Rare Diseases, 2023 Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of
Karolina M. Stepien +9 more
doaj +1 more source
Frontiers in Genetics, 2023 Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul +11 more
doaj +1 more source
Lysosomal Storage Disorders in the Newborn [PDF]
Pediatrics, 2009 Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part ...
Orna, Staretz-Chacham +4 more
openaire +2 more sources