In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy-Reference-Cited by-同舟云学术

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

Published:2020-12 Issue: Volume:25 Page:100678
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Ciana Giovanni,Dardis Andrea,Pavan Eleonora,Da Riol Rosalia Maria,Biasizzo Jessica,Ferino Dania,Zanatta Manuela,Boni Antonella,Antonini Luisa,Crichiutti Giovanni,Bembi Bruno

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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4. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant;Bendikov-Bar;Blood Cells Mol. Dis.,2011

5. The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice;Luan;Brain and Development,2013

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1. Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review;Molecular Genetics and Metabolism;2024-09

2. Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review;Molecular Genetics & Genomic Medicine;2024-03-30

3. Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies;Frontiers in Pharmacology;2024-02-13

4. The use of Ambroxol for the treatment of Gaucher disease: A systematic review;eJHaem;2024-01-30

5. Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification;Biomolecules;2023-08-07