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Article

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.

Orphanet journal of rare diseases - 7 Dec 2010

Andreotti Giuseppina, Guarracino Mario R, Cammisa Marco, Correra Antonella, Cubellis Maria Vittoria

Abstract excerpt

BACKGROUND: The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficult tissues and have low cost. Clinical trials are currently carried out for Fabry disease, a lysosomal storage disorder caused by inherited genetic mutations of alpha-galactosidase. Regrettably,...

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Identifiers

PMID: 21138548
DOI: 10.1186/1750-1172-5-36
PMCID: PMC3016270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.PMID 21138548Read ↗

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