Results 11 to 20 of about 3,523,765 (264)
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
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
The rapidly evolving view of lysosomal storage diseases
EMBO Molecular Medicine, 2021 Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti +2 more
doaj +2 more sources
Lysosomal Storage Diseases [PDF]
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.
openaire +4 more sources
Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship [PDF]
Egyptian Journal of Medical Human Genetics, 2022 Background We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Heba Saed El-Amawy, Heba Dawoud
doaj +2 more sources
Adults with lysosomal storage diseases in the undiagnosed diseases network [PDF]
Molecular Genetics & Genomic Medicine, 2022 Objectives To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN).
Changrui Xiao +7 more
doaj +2 more sources
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
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
doaj +3 more sources
The Link Between Lysosomal Storage Disorders and More Common Diseases
Journal of Inborn Errors of Metabolism and Screening, 2016 In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal
Michael Beck MD
doaj +2 more sources
Combined Therapies for Lysosomal Storage Diseases [PDF]
Current Molecular Medicine, 2015 Lysosomal storage diseases (LSDs) is a group consisting of over 50 disorders caused mostly by dysfunctions of lysosomal proteins and resultant accumulation of particular compounds inside cells and extracellular volumes in affected organisms. Genetic diseases are among the most difficult targets for medical treatment.
Magdalena Gabig-Cimińska +8 more
openaire +4 more sources