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35,178 results
  • Progress in the understanding and treatment of Fabry disease. [Review]
    Biochim Biophys Acta Gen Subj 2019; :129437Miller JJ, Kanack AJ, Dahms NM
  • CONCLUSIONS: How the accumulation of α-galactosidase A substrates, mainly glycosphingolipids, leads to organ damage is incompletely understood. Enzyme replacement and chaperone therapies are clinically available to patients, while substrate reduction, mRNA-based, and gene therapies are on the horizon. Animal models exist to optimize these therapies and elucidate disease mechanisms for novel treatments.Recent newborn screening studies demonstrate that Fabry disease is the most common lysosomal storage disease. As many countries now include Fabry disease in their screening panels, the number of identified patients is expected to increase significantly. Better knowledge of disease pathogenesis is needed to improve treatment options.
  • mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells. [Journal Article]
    Dis Model Mech 2019Brown RA, Voit A, … Awad O
  • Bi-allelic GBA1 mutations cause Gaucher's disease (GD), the most common lysosomal storage disorder (LSD). Neuronopathic manifestations in GD include neurodegeneration, which can be severe and rapidly progressive. GBA1 mutations are also the most frequent genetic risk factors for Parkinson's disease. Dysfunction of the autophagy-lysosomal pathway represents a key pathogenic event in GBA1-associate…
  • Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA. [Journal Article]
    Mol Genet Metab 2019Saville JT, Fuller M
  • Gangliosides are complex glycosphingolipids that are vital for proper brain development and function. Alterations in ganglioside metabolism are evident in neurological disorders including the inherited metabolic disease mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo A syndrome). Here we sought to comprehensively analyse alterations in ganglioside metabolism within the brain of a naturally o…
  • Rare Saposin A deficiency: Novel variant and psychosine analysis. [Journal Article]
    Mol Genet Metab 2019Calderwood L, Wenger DA, … Lee C
  • Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe disease caused by GALC enzyme deficiency. Galactosylsphingosine, also known as psychos…
  • Lyso-Gb3 modulates the gut microbiota and decreases butyrate production. [Journal Article]
    Sci Rep 2019; 9(1):12010Aguilera-Correa JJ, Madrazo-Clemente P, … Requena T
  • Fabry disease is a rare X-linked lysosomal storage disorder resulting from deficient activity of α-galactosidase A, leading to the accumulation of glycosphingolipids such as globotriaosylsphingosine (lyso-Gb3). The gastrointestinal symptoms of this disease may be disabling, and the life expectancy of affected patients is shortened by kidney and heart disease. Our hypothesis was that lyso-Gb3 may …
  • Characterization of Cell Glycocalyx with Mass Spectrometry Methods. [Review]
    Cells 2019; 8(8)Li Q, Xie Y, … Lebrilla CB
  • The cell membrane plays an important role in protecting the cell from its extracellular environment. As such, extensive work has been devoted to studying its structure and function. Crucial intercellular processes, such as signal transduction and immune protection, are mediated by cell surface glycosylation, which is comprised of large biomolecules, including glycoproteins and glycosphingolipids.…
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