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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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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The Role of Exosomes in Lysosomal Storage Disorders [PDF]
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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The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population. [PDF]
Front Aging Neurosci, 2021 Background: Recent years have witnessed an increasing number of studies indicating an essential role of the lysosomal dysfunction in Parkinson’s disease (PD) at the genetic, biochemical, and cellular pathway levels.
Zhao YW +19 more
europepmc +2 more sources
Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C. [PDF]
Cell Death Dis, 2020 Recent studies on developing three-dimensional (3D) brain organoids from stem cells have allowed the generation of in vitro models of neural disease and have enabled the screening of drugs because these organoids mimic the complexity of neural tissue ...
Lee SE +6 more
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PEG-lipid micelles enable cholesterol efflux in Niemann-Pick Type C1 disease-based lysosomal storage disorder [PDF]
Scientific Reports, 2016 2-Hydroxy-propyl-β-cyclodextrin (HPβCD), a cholesterol scavenger, is currently undergoing Phase 2b/3 clinical trial for treatment of Niemann Pick Type C-1 (NPC1), a fatal neurodegenerative disorder that stems from abnormal cholesterol accumulation in the
Anna Brown +13 more
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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. [PDF]
J Clin Invest, 2014 te Vruchte D +35 more
europepmc +4 more sources
Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. [PDF]
JCI Insight, 2019 Accumulation of lysosomal storage material and late-stage neurodegeneration are hallmarks of lysosomal storage disorders (LSDs) affecting the brain. Yet, for most LSDs, including CLN3 disease, the most common form of childhood dementia, it is unclear ...
Ahrens-Nicklas RC +6 more
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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
EMBO Molecular Medicine, 2021 This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon +21 more
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Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells [PDF]
Journal of Lipid Research, 2011 Sulfogalactosylglycerolipid (SGG) is the major sulfoglycolipid of male germ cells. During spermatogenesis, apoptosis occurs in >50% of total germ cells.
Hongbin Xu +8 more
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