Ladislav Kuchar

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 27 publications

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal: Journal of inherited metabolic disease

Published: September 29, 2025

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.

Journal: Journal of the American Society of Nephrology : JASN

Published: May 17, 2024

Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.

Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: May 09, 2024

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 23, 2024

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.

Journal: Redox biology

Published: February 29, 2024

Simultaneous deletion of ORMDL1 and ORMDL3 proteins disrupts immune cell homeostasis.

Simultaneous deletion of ORMDL1 and ORMDL3 proteins disrupts immune cell homeostasis.

Journal: Frontiers in immunology

Published: January 25, 2024

Simultaneous reduction of all ORMDL proteins decreases the threshold of mast cell activation.

Simultaneous reduction of all ORMDL proteins decreases the threshold of mast cell activation.

Journal: Scientific reports

Published: November 22, 2022

Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.

Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.

Journal: Journal of inherited metabolic disease

Published: April 17, 2022

Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.

Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.

Journal: Journal of inherited metabolic disease

Published: October 14, 2021

Crosstalk between ORMDL3, serine palmitoyltransferase, and 5-lipoxygenase in the sphingolipid and eicosanoid metabolic pathways.

Crosstalk between ORMDL3, serine palmitoyltransferase, and 5-lipoxygenase in the sphingolipid and eicosanoid metabolic pathways.

Journal: Journal of lipid research

Published: June 17, 2021

Lipidomic profiling of human serum enables detection of pancreatic cancer.

Lipidomic profiling of human serum enables detection of pancreatic cancer.

Journal: Nature communications

Published: January 06, 2021

ORMDL2 Deficiency Potentiates the ORMDL3-Dependent Changes in Mast Cell Signaling.

ORMDL2 Deficiency Potentiates the ORMDL3-Dependent Changes in Mast Cell Signaling.

Journal: Frontiers in immunology

Published: August 05, 2020

Showing 1-12 of 27

Last Updated: 09/26/2026