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List of works by Mina Mirzaian

Accurate quantification of sphingosine-1-phosphate in normal and Fabry disease plasma, cells and tissues by LC-MS/MS with (13)C-encoded natural S1P as internal standard.

scientific article published on 21 May 2016

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

scientific article published on 24 March 2016

Ceramide in lipid emulsions used in parenteral nutrition: an innocent bystander?

scientific article published on 01 March 2011

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

scientific article published on 31 October 2011

Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease

scientific article published on 09 September 2019

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

scholarly article

Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses

scientific article

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases

scientific article published on 2 January 2016

Glucosylated cholesterol in skin: synthetic role of extracellular glucocerebrosidase

scientific article published on 15 September 2020

Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease

scientific article

Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions

scientific article published on 23 December 2020

In vivo inactivation of glycosidases by conduritol B epoxide and cyclophellitol as revealed by activity-based protein profiling

scientific article published on 02 February 2019

Induction of Sphk1 activity in obese adipose tissue macrophages promotes survival

scientific article

Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice

scientific article published on 6 February 2015

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome

scientific article

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

scientific article published on 23 December 2015

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

scientific article published on 03 March 2016

Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard

scientific article published on 17 January 2015

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

scientific article published on 12 December 2012

Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry

scientific article

Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II.

scientific article published on 6 January 2017

Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice

scientific article (publication date: 2015)

Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish

scientific article published on 27 September 2019

The Iminosugar AMP-DNM Improves Satiety and Activates Brown Adipose Tissue Through GLP1

scientific article published on 02 October 2019

The fruit fly Drosophila melanogaster as a model to study Gaucher disease

scholarly article

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