Proteomics

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Enzyme replacement therapy for Fabry disease: possible strate-gies to improve its efficacy


ABSTRACT: Enzyme Replacement Therapy is the only therapeutic option for Fabry patients with completely absent AGAL activity. However, it has many limitations, in terms of costs, high rh-protein re-quired, and side effects; thus, its optimization would be beneficial for patients. In this paper, we describe preliminary results paving the way for two possible approaches: i. combination of en-zyme replacement therapy with pharmacological chaperones; ii. identification of approved drugs that affect the AGAL interactors' expression. We show that galactose, a low-affinity phar-macological chaperone, can prolong rh-AGAL half-life in FD cells. We compared the wild-type AGAL and the rh-AGAL interactomes and identified a list of drugs known to affect them. This list represents a starting point to deeply screen approved drugs and identify those that can bene-fit the enzyme replacement therapy and those that can negatively interfere with it.

INSTRUMENT(S): LTQ Orbitrap

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture, Fibroblast

DISEASE(S): Fabry Disease

SUBMITTER: Flora Cozzolino  

LAB HEAD: Prof.ssa Maria Monti

PROVIDER: PXD039168 | Pride | 2023-05-10

REPOSITORIES: Pride

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Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.

Iacobucci Ilaria I   Hay Mele Bruno B   Cozzolino Flora F   Monaco Vittoria V   Cimmaruta Chiara C   Monti Maria M   Andreotti Giuseppina G   Monticelli Maria M  

International journal of molecular sciences 20230225 5


Enzyme replacement therapy is the only therapeutic option for Fabry patients with completely absent AGAL activity. However, the treatment has side effects, is costly, and requires conspicuous amounts of recombinant human protein (rh-AGAL). Thus, its optimization would benefit patients and welfare/health services (i.e., society at large). In this brief report, we describe preliminary results paving the way for two possible approaches: i. the combination of enzyme replacement therapy with pharmaco  ...[more]

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