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 ...
Nina Raben, Naresh Kumar Meena
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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.
Ellen Sidransky, Elizabeth Geena Woo
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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. [PDF]
Case Rep Genet, 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.
Panigrahi I +6 more
europepmc +2 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
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 ...
Sérgio Catz +2 more
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SNX8 enables lysosome reformation and reverses lysosomal storage disorder. [PDF]
Nat CommunLysosomal Storage Disorders (LSDs), which share common phenotypes, including enlarged lysosomes and defective lysosomal storage, are caused by mutations in lysosome-related genes.
Li X +10 more
europepmc +2 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
The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population [PDF]
Frontiers in Aging Neuroscience, 2021 Qian Xu, Jifeng Guo, Bin Li
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Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation [PDF]
International Journal of Neonatal Screening, 2023 Konstantinos Petritis +2 more
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Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal [PDF]
Molecular Therapy - Methods and Clinical Development, 2021 Xavier Leon +2 more
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