Rare Diseases

Current bibliography for experts

"Lipid Accumulation" search results...

FABRY

An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

2022-10-12

This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

FABRY

Dysregulated DNA methylation in the pathogenesis of Fabry disease

2022-09-26

This study provides evidence that α-galactosidase A deficiency and glycosphingolipid storage may affect DNA methylation homeostasis and highlights the importance of epigenetics in the pathogenesis of Fabry disease.

FABRY

The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant

2022-06-24

According to the data obtained in this study, the DNA methylation of GLA-HNRNPH2 BDP may serve a role in diagnosing and treating Fabry disease (FD).

ASMD

Acid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism

2021-08-20

In this article, the biochemical characteristics of acid sphingomyelinase (ASM), their potential effect on cellular lipid turnover, as well as a potential impact on physiological processes are discussed.

GAUCHER

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

2021-01-01

The aim of this study was to evaluate the determinants of SARS CoV-2 infection in Gaucher disease (GD) patients. The findings indicated that, despite the chronic inflammatory state in these patients, GD does not increase the risk of serious effects of SARS-CoV-2 infection.

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