Clinical guidelines for the management of children with lysosomal acid lipase deficiency
Педиатрическая фармакология, 2023 Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage ...
Inga V. Anisimova +32 more
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Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]
, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga +5 more
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FEBS Open Bio, EarlyView.UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová +2 more
wiley +1 more source
A terpene nucleoside from M. tuberculosis induces lysosomal lipid storage in foamy macrophages
The Journal of Clinical Investigation, 2023 Induction of lipid-laden foamy macrophages is a cellular hallmark of tuberculosis (TB) disease, which involves the transformation of infected phagolysosomes from a site of killing into a nutrient-rich replicative niche.
Melissa Bedard +22 more
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Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
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Cutaneous Melanoma Drives Metabolic Changes in the Aged Bone Marrow Immune Microenvironment
Aging and Cancer, EarlyView.Melanoma, the deadliest form of skin cancer, increasingly affects older adults. Our study reveals that melanoma induces changes in iron and lipid levels in the bone marrow, impacting immune cell populations and increasing susceptibility to ferroptosis.
Alexis E. Carey +12 more
wiley +1 more source
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
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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Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters
Frontiers in Cell and Developmental Biology, 2021 The regulation of luminal ion concentrations is critical for the function of, and transport between intracellular organelles. The importance of the acidic pH in the compartments of the endosomal-lysosomal pathway has been well-known for decades.
Shroddha Bose +4 more
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Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]
, 2019 Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie +4 more
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Journal of Inborn Errors of Metabolism and Screening, 2014 Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders.
Alroy, Joseph, Lyons, Jeremiah A.
openaire +4 more sources