Results 1 to 10 of about 2,496,873 (280)
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder [PDF]
Biomolecules, 2020 Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen ...
Naresh K. Meena, Nina Raben
doaj +3 more sources
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. [PDF]
Brain, 2017 Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with ...
Robak LA +8 more
europepmc +5 more sources
Immunochemistry of Lysosomal Storage Disorders [PDF]
Clinical Chemistry, 2006 Abstract Background: Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of ...
Parkinson-Lawrence, E. +4 more
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Prevalence of Lysosomal Storage Disorders [PDF]
JAMA, 1999 Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of ...
Meikle, P. +3 more
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Lysosomal Biogenesis in Lysosomal Storage Disorders
Experimental Cell Research, 1997 Lysosomal biogenesis is an orchestration of the structural and functional elements of the lysosome to form an integrated organelle and involves the synthesis, targeting, functional residence, and turnover of the proteins that comprise the lysosome. We have investigated lysosomal biogenesis during the formation and dissipation of storage vacuoles in two
Karageorgos, L. +6 more
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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder [PDF]
Case Reports in Genetics, 2019 Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed.
Inusha Panigrahi +6 more
doaj +2 more sources
SNX8 enables lysosome reformation and reverses lysosomal storage disorder [PDF]
Nature CommunicationsLysosomal Storage Disorders (LSDs), which share common phenotypes, including enlarged lysosomes and defective lysosomal storage, are caused by mutations in lysosome-related genes.
Xinran Li +10 more
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The Role of Exosomes in Lysosomal Storage Disorders
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
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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
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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
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