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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
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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
Gregory M. Enns, Robert D. Steiner
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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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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
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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
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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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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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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
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Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation
Molecular Genetics and Metabolism Reports, 2020 Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães.
Olga Azevedo +12 more
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ARE ENZYME REPLACEMENT THERAPIES EFFECTIVE AGAINST LYSOSOMAL STORAGE DISORDERS?
Gomal Journal of Medical Sciences, 2021 Lysosomal storage disorders are an agglomeration of genetic disorders such as Fabry disease, Gaucher disease, Pompe disease, Krabbe’s disease and mucopolysaccharidosis that typically impairs the prime orangs of humans, including brain, heart ...
Taimoor Hassan, Xu Huadong
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