Results 1 to 10 of about 36,163 (246)
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 +4 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
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 +2 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
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
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
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
Journal 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 +4 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
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