Results 141 to 150 of about 982 (163)

Quantification of Globotriaosylsphingosine in Urine using UPLC-ESI-MS/MS; Application for Screening Fabry Disease

Yakhak Hoeji, 2016
openaire   +1 more source

Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice. [PDF]

Mol Genet Metab Rep
Tsukimura T, Shiga T, Togawa T, Sakuraba H.   +3 more
europepmc   +1 more source

Association of the rs823144 variant of the RAB29 gene with the activity of lysosomal hydrolases in blood cells and risk of Parkinson's disease. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Basharova KS, Bezrukova AI, Senkevich KA, Baydakova GV, Rybakov AV, Miliukhina IV, Timofeeva AA, Zakharova EY, Pchelina SN, Usenko TS.   +9 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

A Concise Synthesis of Globotriaosylsphingosine

European Journal of Organic Chemistry, 2011
AbstractGlobotriaosylsphingosine (lysoCTH) is produced in the cell by deacylation of the globo‐sphingolipid globotriaosylceramide. The latter compound is the major storage material encountered in Fabry patients, an inherited lysosomal storage disorder characterized by partially impaired α‐galactosidase A (GLA) activity.
Gold, Henrik, Boot, Rolf G., Aerts, Johannes M. F. G., Overkleeft, Herman S., Codee, Jeroen D. C., van der Marel, Gijs A.   +5 more
openaire   +2 more sources

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

Molecular Genetics and Metabolism, 2010
Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity. As enzyme replacement therapy (ERT) involving recombinant GLAs has been introduced for this disease, a useful biomarker for diagnosis and monitoring of therapy has been strongly required.
Tadayasu, Togawa, Takashi, Kodama, Toshihiro, Suzuki, Kanako, Sugawara, Takahiro, Tsukimura, Toya, Ohashi, Nobuyuki, Ishige, Ken, Suzuki, Teruo, Kitagawa, Hitoshi, Sakuraba   +9 more
openaire   +2 more sources

Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells

Nephrology, 2017
AbstractFabry disease (FD) is a lysosomal disorder caused by mutations leading to a deficient activity α‐galactosidase A with progressive and systemic accumulation of its substrates. Substrates deposition is related to tissue damage in FD, but the underlying molecular mechanisms remain not completely understood.
Giovana Brondani Biancini, Ana Moira Morás, Luiza Steffens Reinhardt, Franciele Faccio Busatto, Nathalia Denise de Moura Sperotto, Jenifer Saffi, Dinara Jaqueline Moura, Roberto Giugliani, Carmen Regla Vargas   +8 more
openaire   +2 more sources

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

Clinica Chimica Acta, 2020
To develop a method for the combined analysis of plasma and serum glucosylsphingosine (lyso-Gb1) and globotriaosylsphingosine (lyso-Gb3), biomarkers of Gaucher disease (GD) and Fabry disease (FD), respectively.Internal standards were added to 100 µL of plasma/serum and glycosphingolipids: lyso-Gb1, lyso-Gb3, and galactosylsphingosine (GalSph) were ...
James, Beasley, Patricia, McCaw, Haoyue, Zhang, Sarah P, Young, Ashlee R, Stiles   +4 more
openaire   +2 more sources

Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics

Analytical Chemistry, 2012
Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine. Two disease-specific Fabry biomarkers have been identified and quantified in plasma and urine: globotriaosylceramide (Gb(3)) and globotriaosylsphingosine (lyso-Gb(3 ...
Christiane, Auray-Blais, Michel, Boutin, René, Gagnon, Félix O, Dupont, Pamela, Lavoie, Joe T R, Clarke   +5 more
openaire   +2 more sources

Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine [PDF]

Hypertension, 2012
Fabry disease is an X-linked hereditary lysosomal storage disorder attributed to a deficiency of α-galactosidase A leading to increased plasma levels of globotriaosylsphingosine (lysoGb3). The disease presents as a vascular disease, with cerebral, cardiac, and renal complications.
Saskia M. Rombach, Bas van den Bogaard, Eric de Groot, J.E.M. Groener, Ben J. Poorthuis, Gabor E. Linthorst, Bert‐Jan H. van den Born, Carla E. M. Hollak, Johannes M. F. G. Aerts   +8 more
openalex   +4 more sources

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

Molecular Genetics and Metabolism, 2017
Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is produced and contemporary evidence exemplifies its use as a biomarker.
Andrew Talbot, Kathy Nicholls, Janice M. Fletcher, Maria Fuller   +3 more
openaire   +2 more sources