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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
openaire +4 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
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
Ashok Vellodi
exaly +5 more sources
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
openaire +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
Susan A Slaugenhaupt +2 more
exaly +6 more sources
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
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
doaj +2 more sources
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 +2 more sources
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum [PDF]
Case Reports in Pediatrics, 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 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
doaj +2 more sources