Ayelet Vardi

Rehovot, M 76100, Israel

Last Updated: 09/26/2026

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Found 12 publications

Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.

Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.

Journal: Orphanet journal of rare diseases

Published: November 02, 2020

Mice defective in interferon signaling help distinguish between primary and secondary pathological pathways in a mouse model of neuronal forms of Gaucher disease.

Mice defective in interferon signaling help distinguish between primary and secondary pathological pathways in a mouse model of neuronal forms of Gaucher disease.

Journal: Journal of neuroinflammation

Published: May 27, 2020

Substrate reduction therapy using Genz-667161 reduces levels of pathogenic components in a mouse model of neuronopathic forms of Gaucher disease.

Substrate reduction therapy using Genz-667161 reduces levels of pathogenic components in a mouse model of neuronopathic forms of Gaucher disease.

Journal: Journal of neurochemistry

Published: May 24, 2020

Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease.

Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease.

Journal: Progress in neurobiology

Published: May 21, 2020

Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.

Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.

Journal: Neurobiology of disease

Published: January 16, 2019

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

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

Journal: The FEBS journal

Published: September 20, 2018

Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.

Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.

Journal: Journal of neurochemistry

Published: March 29, 2018

Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.

Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.

Journal: Human molecular genetics

Published: February 06, 2018

Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.

Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.

Journal: The Journal of biological chemistry

Published: October 11, 2016

Delineating pathological pathways in a chemically induced mouse model of Gaucher disease.

Delineating pathological pathways in a chemically induced mouse model of Gaucher disease.

Journal: The Journal of pathology

Published: March 01, 2016

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

Journal: Immunity

Published: March 06, 2015

Emerging therapeutic targets for Gaucher disease.

Emerging therapeutic targets for Gaucher disease.

Journal: Expert opinion on therapeutic targets

Published: November 23, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026