Brandy L Young

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Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal hydrolase α-galactosidase A (α-Gal A), and is characterized by pathological accumulation of the substrate, globotriaosylceramide (GL-3). Regular infusion of recombinant human α-Gal A (rhα-Gal A), termed enzyme replacement therapy(More)
We aimed to determine whether shotgun proteomic approaches could be used to identify tuberculosis (TB)-specific biomarkers in the urine of well-characterised patients with active TB versus no TB. Patients with suspected TB (n=63) were classified as: definite TB (Mycobacterium tuberculosis positive culture, n=21); presumed latent-TB infection (LTBI) (M.(More)
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency in alpha-galactosidase A (alpha-Gal A) activity and subsequent accumulation of the substrate globotriaosylceramide (GL-3), which contributes to disease pathology. The pharmacological chaperone (PC) DGJ (1-deoxygalactonojirimycin) binds and stabilizes alpha-Gal A, increasing(More)
In the past 3 years techniques have been developed for autoradiographic localization of diffusable compounds including neurotransmitter receptor ligands (Young and Kuhar, 1979; Herkenham and Pert, 1980). The high spatial resolution of these techniques has provided elegant demonstrations of the regional heterogeneity of receptor densities within the CNS,(More)
The kinetic method is applied to differentiate and quantify mixtures of isomeric tripeptides by generating and mass-selecting alkali metal ion-bound dimeric clusters and examining their competitive dissociations in an ion trap mass spectrometer. This methodology readily distinguishes the pairs of isomers examined here: ( -A)GG/( -A)GG, G( -A)G/G( -A)G, and(More)
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