Results 1 to 10 of about 42,400 (289)
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
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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
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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 Continuous Challenge of Diagnosing patients with Fabry disease in Argentina [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD +3 more
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EMBO Molecular Medicine, 2015 Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi‐systemic disease. Although substrate reduction and lysosomal overload‐decreasing therapies can ameliorate disease progression, the significance of ...
Gennaro Napolitano +7 more
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A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline [PDF]
Neurobiology of Disease, 2017 Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life.
Samantha J. Hindle +4 more
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Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation [PDF]
Molecular Therapy, 2022 Rebecca C Ahrens-Nicklas +2 more
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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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Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder [PDF]
Journal of Radiology Case Reports, 2015 Malatt C, Koning JL, Naheedy J.
exaly +2 more sources