Search filters

List of works by Maria Monticelli

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones

scientific article published on 04 May 2022

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

scientific article published in 2024

E-Learning for Rare Diseases: An Example Using Fabry Disease

scientific article published on 24 September 2017

Immunological aspects of congenital disorders of glycosylation (CDG): a review.

scientific article

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

scientific article published on 20 January 2017

Looking for protein stabilizing drugs with thermal shift assay.

scientific article published on 5 April 2015

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

scientific article published on 13 January 2020

The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

scientific article published on 30 July 2018

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG ⬇️

scientific article published on 26 August 2019

Paulina is supported by:

About Paulina

Help